hg19 LOSS chr16-24700000-36600000

Length (hg19) : 11,900,000 bases - Length (hg38) : 11,911,321 bases

CNV-Hub AChro-Puce
Likely pathogenic

De novo or inherited from symptomatic parent

Inherited from asymptomatic parent

Unknown

AChro-Puce Criteria taken into account¹

Class

2 Major

CNV inherited from Asymptomatic parent

Class

4 Major

De novo CNV or inherited from Symptomatic parent

Class

4 Major

Haploinsufficient gene

Class

4 Minor

No occurrence in DGV / DGV-Gold > 50 % overlaps

Class

4 Minor

CNV length of 1 Mb or more

ISV²

XCNV³

ClassifyCNV ACMG⁴

AnnotSV ACMG⁵

ACMG criteria

ClassifyCNV

2A
+ 1

Complete overlap of an established HI gene/genomic region.

2H
+ 0.15

Multiple HI predictors suggest that AT LEAST ONE gene in the interval is haploinsufficient (HI).

3C
+ 0.9

Number of protein-coding RefSeq genes wholly or partially included in the CNV region.

5B
-0.45

Patient with specific, well-defined phenotype and no family history. CNV is inherited from an apparently unaffected parent.

5D
+ 0.45

CNV segregates with a consistent phenotype observed in the patient’s family.

AnnotSV

2A
+ 1

Complete overlap of an established HI gene/genomic region.

3C
+ 0.9

Number of protein-coding RefSeq genes wholly or partially included in the CNV region.

5B
-0.45

Patient with specific, well-defined phenotype and no family history. CNV is inherited from an apparently unaffected parent.

5D
+ 0.45

CNV segregates with a consistent phenotype observed in the patient’s family.

Diseases :

Gene	Disease	Source	Inheritance
SH2B1	Severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiency	Orphanet	Autosomal dominant
KIF22	Spondyloepimetaphyseal dysplasia with multiple dislocations	Orphanet	Autosomal dominant
TBX6	Autosomal dominant spondylocostal dysostosis	Orphanet	Autosomal dominant
SRCAP	Floating-Harbor syndrome	Orphanet	Autosomal dominant
STX1B	Generalized epilepsy with febrile seizures-plus	Orphanet	Autosomal dominant
ATP2A1	Brody myopathy	Orphanet	Autosomal dominant, Autosomal recessive
SLC5A2	Familial renal glucosuria	Orphanet	Autosomal dominant, Autosomal recessive
CD19	Common variable immunodeficiency	Orphanet	Autosomal dominant, Autosomal recessive, Not applicable
KAT8	Non-specific syndromic intellectual disability	Orphanet	Autosomal dominant, Autosomal recessive, X-linked recessive
PRRT2	Paroxysmal exertion-induced dyskinesia	Orphanet	Autosomal dominant, Not applicable
ARMC5	Cushing syndrome due to macronodular adrenal hyperplasia	Orphanet	Autosomal dominant, Not applicable
IL21R	Combined immunodeficiency due to IL21R deficiency	Orphanet	Autosomal recessive
KATNIP	Joubert syndrome	Orphanet	Autosomal recessive
CLN3	CLN3 disease	Orphanet	Autosomal recessive
TUFM	Combined oxidative phosphorylation defect type 4	Orphanet	Autosomal recessive
ALDOA	Glycogen storage disease due to aldolase A deficiency	Orphanet	Autosomal recessive
CORO1A	Severe combined immunodeficiency due to CORO1A deficiency	Orphanet	Autosomal recessive
HSD3B7	Congenital bile acid synthesis defect type 1	Orphanet	Autosomal recessive
VKORC1	Hereditary combined deficiency of vitamin K-dependent clotting factors	Orphanet	Autosomal recessive
BCKDK	Autism-epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiency	Orphanet	Autosomal recessive
COX6A2	Isolated cytochrome C oxidase deficiency	Orphanet	Autosomal recessive, Mitochondrial inheritance
PHKG2	Glycogen storage disease due to liver phosphorylase kinase deficiency	Orphanet	Autosomal recessive, X-linked recessive
FUS	Myxoid/round cell liposarcoma	Orphanet	Not applicable
ITGAM	Systemic lupus erythematosus	Orphanet	Not applicable
LAT	Severe combined immunodeficiency due to LAT deficiency	Orphanet
MYL11	mylpf arthrogryposis (monoallelic)	DDG2P
SETD1A	intellectual disability	DDG2P

ClinGen

0 benign CNV
0 likely benign CNV
0 uncertain CNV
0 likely pathogenic CNV
0 pathogenic CNV

70% Overlaps

Decipher

0 benign CNV
0 unknown CNV
0 uncertain CNV
0 pathogenic CNV

70% Overlaps

DGV-Gold

0

80% Overlaps

0

50% Overlaps

DGV

0

80% Overlaps

0

50% Overlaps

Coe & Al study⁶

0

Patient cases
70% Overlaps

0

Controls
70% Overlaps

Genes with pHaplo > 0.55⁷

15

TNRC6A ARHGAP17 KDM8 IL21R GTF3C1 XPO6 ATXN2L MAZ TAOK2 SRCAP ZNF629 FBXL19 SETD1A FUS

Genes with pTriplo > 0.68⁷

36

TNRC6A ARHGAP17 GTF3C1 XPO6 ATXN2L TUFM SH2B1 SPNS1 SLX1B MAZ SEZ6L2 TAOK2 PPP4C MAPK3 CORO1A TBC1D10B SEPHS2 ZNF768 ZNF689 PRR14 FBRS SRCAP PHKG2 RNF40 ZNF629 FBXL19 SETD1A STX1B ZNF668 ZNF646 VKORC1 KAT8 FUS ARMC5

Genes in SFARI

8

SEZ6L2 KCTD13 TAOK2 MAPK3 CORO1A SRCAP SETD1A BCKDK

Genes in OMIM

107 Sources and references

1 : AChroPuce Consortium Recommandations pour l’interpretation Clinique des CNV (Copy Number Variations) Septembre 2022.

2 : Automated prediction of the clinical impact of structural copy number variations : M. Gažiová, T. Sládeček, O. Pös, M. Števko, W. Krampl, Z. Pös, R. Hekel, M. Hlavačka, M. Kucharík, J. Radvánszky, J. Budiš & T. Szemes View article

3 : Zhang L, Shi J, Ouyang J, Zhang R, Tao Y, Yuan D, et al X CNV genome wide prediction of the pathogenicity of copy number variations Genome Med 2021 13 132.

4 : Gurbich, T.A., Ilinsky, V.V. ClassifyCNV: a tool for clinical annotation of copy-number variants. Sci Rep 10, 20375 (2020). View article

5 : Geoffroy V, Herenger Y, Kress A, et al. AnnotSV: an integrated tool for structural variations annotation. Bioinforma Oxf Engl. 2018;34(20):3572-3574. doi:10.1093/bioinformatics/bty304

6 : Coe BP, Witherspoon K, Rosenfeld JA, van Bon BWM, Vulto van Silfhout AT, Bosco P, et al Refining analyses of copy number variation identifies specific genes associated with developmental delay Nat Genet 2014 46 1063 71

7 : Collins RL, Glessner JT, Porcu E, Lepamets M, Brandon R, Lauricella C, et al A cross disorder dosage sensitivity map of the human genome Cell 2022 185 3041 3055 e 25

Delete and Recompute CNV

0 Microdeletion and microduplication syndromes from litterature (>= 70% only)

107 OMIM Gene overlap(s)

Download genes as .csv

HS3ST4 NM_006040.3 Whole gene - Size : 445,726 bases

pLI : 0.8 LOEUF : 0.49 sHet : 0.015 pHaplo : 0.53 pTriplo : 0.44
Location : 25,703,280 - 26,149,006

Database :

DecipherGenomics OMIM:604059 GTEx Portal Human Protein Atlas Ensembl

GSG1L NM_001109763.2 Whole gene - Size : 276,186 bases

pLI : 0.77 LOEUF : 0.46 sHet : 0.035 pHaplo : 0.51 pTriplo : 0.58
Location : 27,798,849 - 28,075,035

Database :

DecipherGenomics OMIM:617161 GTEx Portal Human Protein Atlas Ensembl

KATNIP NM_015202.5 Whole gene - Size : 230,211 bases

pLI : 0 LOEUF : 0.91
Location : 27,561,454 - 27,791,665

Disease : Joubert syndrome

Source : Orphanet

Database :

DecipherGenomics OMIM:616650 Orphanet:475 HGNC:29068 PMID:26714646 GTEx Portal Human Protein Atlas Ensembl

Human Phenotype Ontology Show/Hide

HP:0002876	Episodic tachypnea	Episodes of very rapid breathing.
HP:0000276	Long face	Facial height (length) is more than 2 standard deviations above the mean (objective); or, an apparent increase in the height (length) of the face (subjective).
HP:0001250	Seizure	A seizure is an intermittent abnormality of nervous system physiology characterised by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain.
HP:0000175	Cleft palate	Cleft palate is a developmental defect of the palate resulting from a failure of fusion of the palatine processes and manifesting as a separation of the roof of the mouth (soft and hard palate).
HP:0001161	Hand polydactyly	A kind of polydactyly characterized by the presence of a supernumerary finger or fingers.
HP:0000657	Oculomotor apraxia	Ocular motor apraxia is a deficiency in voluntary, horizontal, lateral, fast eye movements (saccades) with retention of slow pursuit movements. The inability to follow objects visually is often compensated by head movements. There may be decreased smooth pursuit, and cancellation of the vestibulo-ocular reflex.
HP:0001288	Gait disturbance	The term gait disturbance can refer to any disruption of the ability to walk. In general, this can refer to neurological diseases but also fractures or other sources of pain that is triggered upon walking. However, in the current context gait disturbance refers to difficulty walking on the basis of a neurological or muscular disease.
HP:0001829	Foot polydactyly	A kind of polydactyly characterized by the presence of a supernumerary toe or toes.
HP:0000508	Ptosis	The upper eyelid margin is positioned 3 mm or more lower than usual and covers the superior portion of the iris (objective); or, the upper lid margin obscures at least part of the pupil (subjective).
HP:0003577	Congenital onset	A phenotypic abnormality that is present at birth.
HP:0002084	Encephalocele	A neural tube defect characterized by sac-like protrusions of the brain and the membranes that cover it through openings in the skull.
HP:0002793	Abnormal pattern of respiration	An anomaly of the rhythm or depth of breathing.
HP:0002788	Recurrent upper respiratory tract infections	An increased susceptibility to upper respiratory tract infections as manifested by a history of recurrent upper respiratory tract infections (running ears - otitis, sinusitis, pharyngitis, tonsillitis).
HP:0000007	Autosomal recessive inheritance	A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
HP:0004322	Short stature	A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to "short stature" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms).
HP:0002251	Aganglionic megacolon	An abnormality resulting from a lack of intestinal ganglion cells (i.e., an aganglionic section of bowel) that results in bowel obstruction with enlargement of the colon.
HP:0000054	Micropenis	Abnormally small penis. At birth, the normal penis is about 3 cm (stretched length from pubic tubercle to tip of penis) with micropenis less than 2.0-2.5 cm.
HP:0000612	Iris coloboma	A coloboma of the iris.
HP:0001251	Ataxia	Cerebellar ataxia refers to ataxia due to dysfunction of the cerebellum. This causes a variety of elementary neurological deficits including asynergy (lack of coordination between muscles, limbs and joints), dysmetria (lack of ability to judge distances that can lead to under- or overshoot in grasping movements), and dysdiadochokinesia (inability to perform rapid movements requiring antagonizing muscle groups to be switched on and off repeatedly).
HP:0000463	Anteverted nares	Anteriorly-facing nostrils viewed with the head in the Frankfurt horizontal and the eyes of the observer level with the eyes of the subject. This gives the appearance of an upturned nose (upturned nasal tip).
HP:0002553	Highly arched eyebrow	Increased height of the central portion of the eyebrow, forming a crescent, semicircular, or inverted U shape.
HP:0000639	Nystagmus	Rhythmic, involuntary oscillations of one or both eyes related to abnormality in fixation, conjugate gaze, or vestibular mechanisms.
HP:0002650	Scoliosis	The presence of an abnormal lateral curvature of the spine.
HP:0410030	Cleft lip	A gap in the lip or lips.
HP:0001249	Intellectual disability	Intellectual disability, previously referred to as mental retardation, is characterized by subnormal intellectual functioning that occurs during the developmental period. It is defined by an IQ score below 70.
HP:0000871	Panhypopituitarism	A pituitary functional deficit affecting all the anterior pituitary hormones (growth hormone, thyroid-stimulating hormone, follicle-stimulating hormone, luteinizing hormone, adrenocorticotropic hormone, and prolactin).
HP:0000238	Hydrocephalus	Hydrocephalus is an active distension of the ventricular system of the brain resulting from inadequate passage of CSF from its point of production within the cerebral ventricles to its point of absorption into the systemic circulation.
HP:0002126	Polymicrogyria	Polymicrogyria is a congenital malformation of the cerebral cortex characterized by abnormal cortical layering (lamination) and an excessive number of small gyri (folds).
HP:0001252	Hypotonia	Hypotonia is an abnormally low muscle tone (the amount of tension or resistance to movement in a muscle). Even when relaxed, muscles have a continuous and passive partial contraction which provides some resistance to passive stretching. Hypotonia thus manifests as diminished resistance to passive stretching. Hypotonia is not the same as muscle weakness, although the two conditions can co-exist.
HP:0000202	Orofacial cleft	The presence of a cleft in the oral cavity, the two main types of which are cleft lip and cleft palate. In cleft lip, there is the congenital failure of the maxillary and median nasal processes to fuse, forming a groove or fissure in the lip. In cleft palate, there is a congenital failure of the palate to fuse properly, forming a grooved depression or fissure in the roof of the mouth. Clefts of the lip and palate can occur individually or together. It is preferable to code each defect separately.
HP:0002104	Apnea	Lack of breathing with no movement of the respiratory muscles and no exchange of air in the lungs. This term refers to a disposition to have recurrent episodes of apnea rather than to a single event.
HP:0001696	Situs inversus totalis	A left-right reversal (or "mirror reflection") of the anatomical location of the major thoracic and abdominal organs.
HP:0002269	Abnormality of neuronal migration	An abnormality resulting from an anomaly of neuronal migration, i.e., of the process by which neurons travel from their origin to their final position in the brain.
HP:0001290	Generalized hypotonia	Generalized muscular hypotonia (abnormally low muscle tone).
HP:0000369	Low-set ears	Upper insertion of the ear to the scalp below an imaginary horizontal line drawn between the inner canthi of the eye and extending posteriorly to the ear.
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	Absence or underdevelopment of the corpus callosum.
HP:0008872	Feeding difficulties in infancy	Impaired feeding performance of an infant as manifested by difficulties such as weak and ineffective sucking, brief bursts of sucking, and falling asleep during sucking. There may be difficulties with chewing or maintaining attention.
HP:0011787	Central hypothyroidism	A type of hypothyroidism due to an insufficient stimulation of an otherwise normal thyroid gland. Central hypothyroidism is caused by either pituitary (secondary hypothyroidism) or hypothalamic (tertiary hypothyroidism) defects.
HP:0004422	Biparietal narrowing	A narrowing of the biparietal diameter (i.e., of the transverse distance between the protuberances of the two parietal bones of the skull).
HP:0001263	Global developmental delay	A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. This term should only be used to describe children younger than five years of age.
HP:0000426	Prominent nasal bridge	Anterior positioning of the nasal root in comparison to the usual positioning for age.
HP:0001337	Tremor	An unintentional, oscillating to-and-fro muscle movement about a joint axis.
HP:0000824	Decreased response to growth hormone stimulation test	Insufficient responses to growth hormone (GH) provocation tests. GH deficiency is defined as a serum peak GH concentration less than 10 ng/mL on provocation with a combination of at least two separate stimulation tests.
HP:0000316	Hypertelorism	Interpupillary distance more than 2 SD above the mean (alternatively, the appearance of an increased interpupillary distance or widely spaced eyes).
HP:0001320	Cerebellar vermis hypoplasia	Underdevelopment of the vermis of cerebellum.
HP:0000486	Strabismus	A misalignment of the eyes so that the visual axes deviate from bifoveal fixation. The classification of strabismus may be based on a number of features including the relative position of the eyes, whether the deviation is latent or manifest, intermittent or constant, concomitant or otherwise and according to the age of onset and the relevance of any associated refractive error.
HP:0030680	Abnormal cardiovascular system morphology	Any structural anomaly of the heart and great vessels.
HP:0003312	Abnormal form of the vertebral bodies	Abnormal morphology of vertebral body.
HP:0002007	Frontal bossing	Bilateral bulging of the lateral frontal bone prominences with relative sparing of the midline.
HP:0000864	Abnormality of the hypothalamus-pituitary axis	Abnormality of the pituitary gland (also known as hypophysis), which is an endocrine gland that protrudes from the bottom of the hypothalamus at the base of the brain. The pituitary gland secretes the hormones ACTH, TSH, PRL, GH, endorphins, FSH, LH, oxytocin, and antidiuretic hormone. The secretion of hormones from the anterior pituitary is under the strict control of hypothalamic hormones, and the posterior pituitary is essentially an extension of the hypothalamus, so that hypothalamus and pituitary gland may be regarded as a functional unit.

TNRC6A NM_014494.4 Exons 1->25 / 25 - Size : 217,423 bases

pLI : 1 LOEUF : 0.16 sHet : 0.121 pHaplo : 1 pTriplo : 0.91
Location : 24,621,530 - 24,838,953

Database :

DecipherGenomics OMIM:610739 GTEx Portal Human Protein Atlas Ensembl

Human Phenotype Ontology Show/Hide

HP:0003581	Adult onset	Onset of disease manifestations in adulthood, defined here as at the age of 16 years or later.
HP:0033054	Myoclonic tremor	A tremor-like cortical myoclonus. The tremulous movements are in fact small, high-frequency myoclonic jerks, induced by posture or action. They can be mild, but can also be more incapacitating. When present in the lower limbs, these may lead to gait disorders and even drop attacks. These tremor-like movements during action can be mistaken for essential tremor or epileptic seizures.
HP:0000006	Autosomal dominant inheritance	A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.

XPO6 NM_015171.4 Whole gene - Size : 113,989 bases

pLI : 1 LOEUF : 0.08 sHet : 0.374 pHaplo : 0.97 pTriplo : 0.71
Location : 28,109,297 - 28,223,286

Database :

DecipherGenomics OMIM:608411 GTEx Portal Human Protein Atlas Ensembl

ARHGAP17 NM_001006634.3 Whole gene - Size : 96,277 bases

pLI : 0.02 LOEUF : 0.44 sHet : 0.151 pHaplo : 0.8 pTriplo : 0.69
Location : 24,930,710 - 25,026,987

Database :

DecipherGenomics OMIM:608293 GTEx Portal Human Protein Atlas Ensembl

GTF3C1 NM_001520.4 Whole gene - Size : 90,358 bases

pLI : 1 LOEUF : 0.17 sHet : 0.058 pHaplo : 0.98 pTriplo : 0.98
Location : 27,470,876 - 27,561,234

Database :

DecipherGenomics OMIM:603246 GTEx Portal Human Protein Atlas Ensembl

ITGAM NM_000632.4 Whole gene - Size : 72,925 bases

pLI : 0 LOEUF : 0.64 sHet : 0.005 pHaplo : 0.1 pTriplo : 0.21
Location : 31,271,288 - 31,344,213

Disease : Systemic lupus erythematosus

Source : Orphanet

Database :

DecipherGenomics PanelApp OMIM:120980 Orphanet:536 HGNC:6149 PMID:19286673 PMID:23917156 PMID:23943494 GTEx Portal Human Protein Atlas Ensembl

Human Phenotype Ontology Show/Hide

HP:0032235	Anti-La/SS-B antibody positivity	The presence of autoantibodies in the blood circulation that react against La/SSB autoantigens.
HP:0012085	Pyuria	The presence of 10 or more white cells per cubic millimeter in a urine specimen, 3 or more white cells per high-power field of unspun urine, a positive result on Gram staining of an unspun urine specimen, or a urinary dipstick test that is positive for leukocyte esterase.
HP:0003493	Antinuclear antibody positivity	The presence of autoantibodies in the serum that react against nuclei or nuclear components.
HP:0001250	Seizure	A seizure is an intermittent abnormality of nervous system physiology characterised by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain.
HP:0025300	Malar rash	An erythematous (red), flat facial rash that affects the skin in the malar area (over the cheekbones) and extends over the bridge of the nose.
HP:0003453	Antineutrophil antibody positivity	The presence of autoantibodies in the serum that react against neutrophils.
HP:0033028	Anti-U1 ribonucleoprotein antibody positivity	The presence autoantibodies in the serum that react to proteins (70 Kd, A, C) that are associated with U1 RNA and form U1snRNP.
HP:0100669	Abnormal pigmentation of the oral mucosa	An abnormality of the pigmentation of the mucosa of the mouth.
HP:0002072	Chorea	Chorea (Greek for 'dance') refers to widespread arrhythmic involuntary movements of a forcible, jerky and restless fashion. It is a random-appearing sequence of one or more discrete involuntary movements or movement fragments. Movements appear random because of variability in timing, duration or location. Each movement may have a distinct start and end. However, movements may be strung together and thus may appear to flow randomly from one muscle group to another. Chorea can involve the trunk, neck, face, tongue, and extremities.
HP:0001878	Hemolytic anemia	A type of anemia caused by premature destruction of red blood cells (hemolysis).
HP:0000155	Oral ulcer	Erosion of the mucous mebrane of the mouth with local excavation of the surface, resulting from the sloughing of inflammatory necrotic tissue.
HP:0001873	Thrombocytopenia	A reduction in the number of circulating thrombocytes.
HP:0030880	Raynaud phenomenon
HP:0045073	Serositis	Inflammation in any serous cavity.
HP:0000790	Hematuria	The presence of blood in the urine. Hematuria may be gross hematuria (visible to the naked eye) or microscopic hematuria (detected by dipstick or microscopic examination of the urine).
HP:0100755	Abnormality of salivation
HP:0000093	Proteinuria	Increased levels of protein in the urine.
HP:0033726	Lupus nephritis	Lupus nephritis is a type of glomerulonephritis that constitutes one of the most severe organ manifestations of systemic lupus erythematosus. Lupus nephritis is subclassified in six distinct classes, that represent different manifestations and severities of renal involvement and guide the therapeutic management.
HP:0001596	Alopecia	A noncongenital process of hair loss, which may progress to partial or complete baldness.
HP:0005421	Decreased circulating complement C3 concentration	Concentration of the complement component C3 in the blood circulation below the lower limit of normal.
HP:0007417	Discoid lupus rash	Cutaneous lesion that develops as a dry, scaly, red patch that evolves to an indurated and hyperpigmented plaque with adherent scale. Scarring may result in central white patches (loss of pigmentation) and skin atrophy.
HP:0000716	Depression	Frequently experiencing feelings of being down, miserable, and/or hopeless; struggling to recover from these moods; having a pessimistic outlook on the future; feeling a pervasive sense of shame; having a low self-worth; experiencing thoughts of suicide and engaging in suicidal behavior.
HP:0100825	Cheilitis	Inflammation of the lip.
HP:0000488	Retinopathy	Any noninflammatory disease of the retina. This nonspecific term is retained here because of its wide use in the literature, but if possible new annotations should indicate the precise type of retinal abnormality.
HP:0001369	Arthritis	Inflammation of a joint.
HP:0001882	Leukopenia	An abnormal decreased number of leukocytes in the blood.
HP:0000992	Cutaneous photosensitivity	An increased sensitivity of the skin to light. Photosensitivity may result in a rash upon exposure to the sun (which is known as photodermatosis). Photosensitivity can be diagnosed by phototests in which light is shone on small areas of skin.
HP:0002716	Lymphadenopathy	Enlargment (swelling) of a lymph node.
HP:0000822	Hypertension	The presence of chronic increased pressure in the systemic arterial system.
HP:0045042	Decreased circulating complement C4 concentration	Concentration of the complement component C4 in the blood circulation below the lower limit of normal.

LCMT1 NM_016309.3 Whole gene - Size : 66,500 bases

pLI : 0 LOEUF : 0.87 sHet : 0.078 pHaplo : 0.48 pTriplo : 0.34
Location : 25,123,052 - 25,189,552

Database :

DecipherGenomics OMIM:610286 GTEx Portal Human Protein Atlas Ensembl

SLC5A11 NM_001352248.3 Whole gene - Size : 65,787 bases

pLI : 0 LOEUF : 1.05 pHaplo : 0.24 pTriplo : 0.5
Location : 24,857,162 - 24,922,949

Database :

DecipherGenomics OMIM:610238 GTEx Portal Human Protein Atlas Ensembl

SBK1 NM_001024401.3 Whole gene - Size : 64,603 bases

pLI : 0.37 LOEUF : 0.7 sHet : 0.031 pHaplo : 0.49 pTriplo : 0.66
Location : 28,270,567 - 28,335,170

Database :

DecipherGenomics OMIM:620212 GTEx Portal Human Protein Atlas Ensembl

BCL7C NM_004765.4 Whole gene - Size : 60,676 bases

pLI : 0.08 LOEUF : 0.72 sHet : 0.022 pHaplo : 0.1 pTriplo : 0.64
Location : 30,844,947 - 30,905,623

Database :

DecipherGenomics OMIM:605847 GTEx Portal Human Protein Atlas Ensembl

IL4R NM_000418.4 Whole gene - Size : 51,110 bases

pLI : 0 LOEUF : 0.83 sHet : 0.019 pHaplo : 0.37 pTriplo : 0.21
Location : 27,324,989 - 27,376,099

Database :

DecipherGenomics PanelApp OMIM:147781 GTEx Portal Human Protein Atlas Ensembl

Human Phenotype Ontology Show/Hide

HP:0000964	Eczema	Eczema is a form of dermatitis. The term eczema is broadly applied to a range of persistent skin conditions and can be related to a number of underlying conditions. Manifestations of eczema can include dryness and recurring skin rashes with redness, skin edema, itching and dryness, crusting, flaking, blistering, cracking, oozing, or bleeding.
HP:0000006	Autosomal dominant inheritance	A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
HP:0003193	Allergic rhinitis	It is characterized by one or more symptoms including sneezing, itching, nasal congestion, and rhinorrhea.
HP:0003212	Increased circulating IgE level	An abnormally increased overall level of immunoglobulin E in blood.
HP:0002099	Asthma	Asthma is characterized by increased responsiveness of the tracheobronchial tree to multiple stimuli, leading to narrowing of the air passages with resultant dyspnea, cough, and wheezing.

ITGAL NM_002209.3 Whole gene - Size : 50,909 bases

pLI : 0 LOEUF : 0.41 sHet : 0.027 pHaplo : 0.23 pTriplo : 0.24
Location : 30,483,979 - 30,534,888

Database :

DecipherGenomics PanelApp OMIM:153370 GTEx Portal Human Protein Atlas Ensembl

IL21R NM_181078.3 Whole gene - Size : 49,868 bases

pLI : 1 LOEUF : 0.2 sHet : 0.217 pHaplo : 0.69 pTriplo : 0.33
Location : 27,413,495 - 27,463,363

Disease : Combined immunodeficiency due to IL21R deficiency

Source : Orphanet

Database :

DecipherGenomics PanelApp OMIM:605383 Orphanet:357329 HGNC:6006 PMID:23440042 GTEx Portal Human Protein Atlas Ensembl

Human Phenotype Ontology Show/Hide

HP:0001394	Cirrhosis	A chronic disorder of the liver in which liver tissue becomes scarred and is partially replaced by regenerative nodules and fibrotic tissue resulting in loss of liver function.
HP:0030151	Cholangitis	Inflammation of the biliary ductal system, affecting the intrahepatic or extrahepatic portions, or both.
HP:0200124	Chronic hepatitis due to cryptosporidium infection	Chronic hepatitis associated with infection by cryptosporidia, as demonstrated (for example) by immunohistochemistry of liver tissue.
HP:0003139	Panhypogammaglobulinemia	A reduction in the circulating levels of all the major classes of immunoglobulin. is characterized by profound decreases in all classes of immunoglobulin with an absence of circulating B lymphocytes.
HP:0002205	Recurrent respiratory infections	An increased susceptibility to respiratory infections as manifested by a history of recurrent respiratory infections.
HP:0011463	Childhood onset	Onset of disease at the age of between 1 and 5 years.
HP:0001399	Hepatic failure
HP:0000403	Recurrent otitis media	Increased susceptibility to otitis media, as manifested by recurrent episodes of otitis media.
HP:0002719	Recurrent infections	Increased susceptibility to infections.
HP:0011108	Recurrent sinusitis	A recurrent form of sinusitis.
HP:0020102	Pneumocystis jirovecii pneumonia	An opportunistic disease caused by invasion of unicellular fungus Pneumocystis jirovecii. Transmission of P. jirovecii cysts takes place through the airborne route, and usually, its presence in lungs is asymptomatic. However, people with impaired immunity, especially those with CD4+ T cell count below 200/microliter, are still at risk of the development of Pneumocystis pneumonia due to P. jirovecii invasion. Symptoms induced by this disease are not specific: progressive dyspnoea, non-productive cough, low-grade fever, arterial partial pressure of oxygen below 65 mmHg, and chest radiographs demonstrating bilateral, interstitial shadowing.
HP:0000007	Autosomal recessive inheritance	A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
HP:0002110	Bronchiectasis	Persistent abnormal dilatation of the bronchi owing to localized and irreversible destruction and widening of the large airways.
HP:0001508	Failure to thrive	Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm.
HP:0006532	Recurrent pneumonia	An increased susceptibility to pneumonia as manifested by a history of recurrent episodes of pneumonia.
HP:0002028	Chronic diarrhea	The presence of chronic diarrhea, which is usually taken to mean diarrhea that has persisted for over 4 weeks.
HP:0002721	Immunodeficiency	Failure of the immune system to protect the body adequately from infection, due to the absence or insufficiency of some component process or substance.
HP:0004798	Recurrent infection of the gastrointestinal tract	Recurrent infection of the gastrointestinal tract.

EIF3C NM_003752.5 Whole gene - Size : 47,169 bases

pLI : 0 LOEUF : 1.93 pHaplo : 0.11 pTriplo : 0.28
Location : 28,699,879 - 28,747,048

Database :

DecipherGenomics OMIM:603916 GTEx Portal Human Protein Atlas Ensembl

NSMCE1 NM_145080.4 Whole gene - Size : 43,778 bases

pLI : 0 LOEUF : 1.18 sHet : 0.014 pHaplo : 0.23 pTriplo : 0.26
Location : 27,236,315 - 27,280,093

Database :

DecipherGenomics OMIM:617263 GTEx Portal Human Protein Atlas Ensembl

ZNF267 NM_003414.6 Whole gene - Size : 43,550 bases

pLI : 0.02 LOEUF : 1.55 sHet : 0.011 pHaplo : 0.12 pTriplo : 0.25
Location : 31,885,128 - 31,928,678

Database :

DecipherGenomics OMIM:604752 GTEx Portal Human Protein Atlas Ensembl

SRCAP NM_006662.3 Whole gene - Size : 43,200 bases

pLI : 1 LOEUF : 0.1 sHet : 0.323 pHaplo : 0.99 pTriplo : 1
Location : 30,709,530 - 30,752,730

Disease : Floating-Harbor syndrome

Source : Orphanet

Database :

DecipherGenomics PanelApp OMIM:611421 Orphanet:2044 HGNC:16974 PMID:22965468 GTEx Portal Human Protein Atlas Ensembl

Human Phenotype Ontology Show/Hide

HP:0040288	Nasogastric tube feeding	The condition of inability to eat normally treated by placement of a thin tube through the nose into the stomach that is then used to carry food.
HP:0000914	Shield chest	A broad chest.
HP:0000276	Long face	Facial height (length) is more than 2 standard deviations above the mean (objective); or, an apparent increase in the height (length) of the face (subjective).
HP:0010957	Congenital posterior urethral valve	A developmental defect resulting in an obstructing membrane in the posterior male urethra.
HP:0005487	Prominent metopic ridge	Vertical bony ridge positioned in the midline of the forehead.
HP:0031936	Delayed ability to walk	A failure to achieve the ability to walk at an appropriate developmental stage. Most children learn to walk in a series of stages, and learn to walk short distances independently between 12 and 15 months.
HP:0000455	Broad nasal tip	Increase in width of the nasal tip.
HP:0000023	Inguinal hernia	Protrusion of the contents of the abdominal cavity through the inguinal canal.
HP:0000028	Cryptorchidism	Testis in inguinal canal. That is, absence of one or both testes from the scrotum owing to failure of the testis or testes to descend through the inguinal canal to the scrotum.
HP:0000739	Anxiety	Intense feelings of nervousness, tension, or panic often arise in response to interpersonal stresses. There is worry about the negative effects of past unpleasant experiences and future negative possibilities. Individuals may feel fearful, apprehensive, or threatened by uncertainty, and they may also have fears of falling apart or losing control.
HP:0001620	High pitched voice	An abnormal increase in the pitch (frequency) of the voice.
HP:0006335	Persistence of primary teeth	Persistence of the primary teeth beyond the age by which they normally are shed and replaced by the permanent teeth.
HP:0000256	Macrocephaly	Occipitofrontal (head) circumference greater than 97th centile compared to appropriate, age matched, sex-matched normal standards. Alternatively, a apparently increased size of the cranium.
HP:0000252	Microcephaly	Head circumference below 2 standard deviations below the mean for age and gender.
HP:0011220	Prominent forehead	Forward prominence of the entire forehead, due to protrusion of the frontal bone.
HP:0000286	Epicanthus	A fold of skin starting above the medial aspect of the upper eyelid and arching downward to cover, pass in front of and lateral to the medial canthus.
HP:0000593	Abnormal anterior chamber morphology	Abnormality of the anterior chamber, which is the space in the eye that is behind the cornea and in front of the iris.
HP:0000629	Periorbital fullness	Increase in periorbital soft tissue.
HP:0000006	Autosomal dominant inheritance	A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
HP:0010047	Short 5th metacarpal	Short fifth metacarpal bone.
HP:0001047	Atopic dermatitis	Atopic dermatitis (AD) or atopic eczema is an itchy, inflammatory skin condition with a predilection for the skin flexures. It is characterized by poorly defined erythema with edema, vesicles, and weeping in the acute stage and skin thickening (lichenification) in the chronic stage.
HP:0000327	Hypoplasia of the maxilla	Abnormally small dimension of the Maxilla. Usually creating a malocclusion or malalignment between the upper and lower teeth or resulting in a deficient amount of projection of the base of the nose and lower midface region.
HP:0010034	Short 1st metacarpal	A developmental defect characterized by reduced length of the first metacarpal (long bone) of the hand.
HP:0001680	Coarctation of aorta	Coarctation of the aorta is a narrowing or constriction of a segment of the aorta.
HP:0000545	Myopia	An abnormality of refraction characterized by the ability to see objects nearby clearly, while objects in the distance appear blurry.
HP:0012538	Gluten intolerance	A detrimental reaction to the presence of gluten in food, which may include abdominal pain, fatigue, headaches and paresthesia, or celiac disease.
HP:0001537	Umbilical hernia	Protrusion of abdominal contents through a defect in the abdominal wall musculature around the umbilicus. Skin and subcutaneous tissue overlie the defect.
HP:0000448	Prominent nose	Distance between subnasale and pronasale more than two standard deviations above the mean, or alternatively, an apparently increased anterior protrusion of the nasal tip.
HP:0011599	Mesocardia	Mesocardia is an abnormal location of the heart in which the heart is in a midline position and the longitudinal axis of the heart lies in the mid-sagittal plane.
HP:0009778	Short thumb	Hypoplasia (congenital reduction in size) of the thumb.
HP:0000278	Retrognathia	An abnormality in which the mandible is mislocalised posteriorly.
HP:0002608	Celiac disease	Celiac disease (CD) is an autoimmune condition affecting the small intestine, triggered by the ingestion of gluten, the protein fraction of wheat, barley, and rye. Clinical manifestations of CD are highly variable and include both gastrointestinal and non-gastrointestinal features. The hallmark of CD is an immune-mediated enteropathy. This term is included because the occurence of CD is seen as a feature of a number of other diseases.
HP:0000709	Psychosis	A condition characterized by changes in personality and thought patterns, often accompanied by hallucinations and delusional beliefs, is known as psychosis.
HP:0000718	Aggressive behavior	Behavior or an act aimed at harming a person, animal, or physical property (e.g., acts of physical violence; shouting, swearing, and using harsh language; slashing someone's tires).
HP:0000369	Low-set ears	Upper insertion of the ear to the scalp below an imaginary horizontal line drawn between the inner canthi of the eye and extending posteriorly to the ear.
HP:0004209	Clinodactyly of the 5th finger	Clinodactyly refers to a bending or curvature of the fifth finger in the radial direction (i.e., towards the 4th finger).
HP:0001260	Dysarthria	Dysarthric speech is a general description referring to a neurological speech disorder characterized by poor articulation. Depending on the involved neurological structures, dysarthria may be further classified as spastic, flaccid, ataxic, hyperkinetic and hypokinetic, or mixed.
HP:0008554	Cochlear malformation	The presence of a malformed cochlea.
HP:0011300	Broad fingertip	Increased width of the distal segment of a finger.
HP:0001611	Hypernasal speech	A type of speech characterized by the presence of an abnormally increased nasal airflow during speech associated with structural abnormality of the nasal passages.
HP:0002750	Delayed skeletal maturation	A decreased rate of skeletal maturation. Delayed skeletal maturation can be diagnosed on the basis of an estimation of the bone age from radiographs of specific bones in the human body.
HP:0100710	Impulsivity	Acting on the spur of the moment in response to immediate stimuli; acting on a momentary basis without a plan or consideration of outcomes; having difficulty establishing or following plans; experiencing a sense of urgency and engaging in self-harming behavior when under emotional distress.
HP:0000527	Long eyelashes	Mid upper eyelash length >10 mm or increased length of the eyelashes (subjective).
HP:0030084	Clinodactyly	An angulation of a digit at an interphalangeal joint in the plane of the palm (finger) or sole (toe).
HP:0000303	Mandibular prognathia	Abnormal prominence of the chin related to increased length of the mandible.
HP:0003879	Humeral pseudarthrosis
HP:0001631	Atrial septal defect	Atrial septal defect (ASD) is a congenital abnormality of the interatrial septum that enables blood flow between the left and right atria via the interatrial septum.
HP:0005743	Avascular necrosis of the capital femoral epiphysis	Avascular necrosis of the proximal epiphysis of the femur occurring in growing children and caused by an interruption of the blood supply to the head of the femur close to the hip joint. The necrosis is characteristically associated with flattening of the femoral head, for which reason the term coxa plana has been used to refer to this feature in the medical literature.
HP:0000121	Nephrocalcinosis	Nephrocalcinosis is the deposition of calcium salts in renal parenchyma.
HP:0010252	Ivory epiphyses of the distal phalanges of the hand	Distal epiphyses of the hand are hard and dense like ivory. Such an epiphysis has a uniformly dense appearance on radiographs.
HP:0000540	Hypermetropia	An abnormality of refraction characterized by the ability to see objects in the distance clearly, while objects nearby appear blurry.
HP:0000490	Deeply set eye	An eye that is more deeply recessed into the plane of the face than is typical.
HP:0000711	Restlessness	A state of unease is characterized by diffuse motor activity or motion, which is subject to limited control, nonproductive, or disorganized behavior.
HP:0007018	Attention deficit hyperactivity disorder	Attention deficit hyperactivity disorder (ADHD) manifests at age 2-3 years or by first grade at the latest. The main symptoms are distractibility, impulsivity, hyperactivity, and often trouble organizing tasks and projects, difficulty going to sleep, and social problems from being aggressive, loud, or impatient.
HP:0001518	Small for gestational age	Smaller than normal size according to sex and gestational age related norms, defined as a weight below the 10th percentile for the gestational age.
HP:0002342	Intellectual disability, moderate	Moderate mental retardation is defined as an intelligence quotient (IQ) in the range of 35-49.
HP:0003189	Long nose	Distance from nasion to subnasale more than two standard deviations above the mean, or alternatively, an apparently increased length from the nasal root to the nasal base.
HP:0010230	Cone-shaped epiphyses of the phalanges of the hand	A cone-shaped appearance of the epiphyses of the fingers of the hand, producing a 'ball-in-a-socket' appearance. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of a phalanx.
HP:0002474	Expressive language delay	A delay in the acquisition of the ability to use language to communicate needs, wishes, or thoughts.
HP:0001382	Joint hypermobility	The ability of a joint to move beyond its normal range of motion.
HP:0000677	Oligodontia	The absence of six or more teeth from the normal series by a failure to develop.
HP:0001344	Absent speech	Complete lack of development of speech and language abilities.
HP:0002019	Constipation	Infrequent or difficult evacuation of feces.
HP:0002020	Gastroesophageal reflux	A condition in which the stomach contents leak backwards from the stomach into the esophagus through the lower esophageal sphincter.
HP:0003083	Dislocated radial head	A dislocation of the head of the radius from its socket in the elbow joint.
HP:0005301	Persistent left superior vena cava	A rare congenital vascular anomaly that results when the left superior cardinal vein caudal to the innominate vein fails to regress.
HP:0001250	Seizure	A seizure is an intermittent abnormality of nervous system physiology characterised by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain.
HP:0000722	Compulsive behaviors	Behavior that consists of repetitive acts, characterized by the feeling that one "has to" perform them, while being aware that these acts are not in line with one's overall goal.
HP:0000708	Atypical behavior	Atypical behavior is an abnormality in a person's actions, which can be controlled or modulated by the will of the individual. While abnormal behaviors can be difficult to control, they are distinct from other abnormal actions that cannot be affected by the individual's will.
HP:0000878	11 pairs of ribs	Presence of only 11 pairs of ribs.
HP:0000736	Short attention span	Reduced attention span characterized by distractibility and impulsivity.
HP:0009765	Low hanging columella	Columella extending inferior to the level of the nasal base, when viewed from the side.
HP:0000232	Everted lower lip vermilion	An abnormal configuration of the lower lip such that it is turned outward i.e., everted, with the Inner aspect of the lower lip vermilion (normally opposing the teeth) being visible in a frontal view.
HP:0002136	Broad-based gait	An abnormal gait pattern in which persons stand and walk with their feet spaced widely apart. This is often a component of cerebellar ataxia.
HP:0000729	Autistic behavior	Persistent deficits in social interaction and communication and interaction as well as a markedly restricted repertoire of activity and interest as well as repetitive patterns of behavior.
HP:0000007	Autosomal recessive inheritance	A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
HP:0001156	Brachydactyly	Digits that appear disproportionately short compared to the hand/foot. The word brachydactyly is used here to describe a series distinct patterns of shortened digits (brachydactyly types A-E). This is the sense used here.
HP:0000430	Underdeveloped nasal alae	Thinned, deficient, or excessively arched ala nasi.
HP:0001385	Hip dysplasia	The presence of developmental dysplasia of the hip.
HP:0000154	Wide mouth	Distance between the oral commissures more than 2 SD above the mean. Alternatively, an apparently increased width of the oral aperture (subjective).
HP:0000325	Triangular face	Facial contour, as viewed from the front, triangular in shape, with breadth at the temples and tapering to a narrow chin.
HP:0004322	Short stature	A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to "short stature" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms).
HP:0000670	Carious teeth	Caries is a multifactorial bacterial infection affecting the structure of the tooth. This term has been used to describe the presence of more than expected dental caries.
HP:0000322	Short philtrum	Distance between nasal base and midline upper lip vermilion border more than 2 SD below the mean. Alternatively, an apparently decreased distance between nasal base and midline upper lip vermilion border.
HP:0000446	Narrow nasal bridge	Decreased width of the bony bridge of the nose.
HP:0003037	Enlarged joints	Increase in size of one or more joints.
HP:0000826	Precocious puberty	The onset of secondary sexual characteristics before a normal age. Although it is difficult to define normal age ranges because of the marked variation with which puberty begins in normal children, precocious puberty can be defined as the onset of puberty before the age of 8 years in girls or 9 years in boys.
HP:0010946	Dilatation of the renal pelvis	The presence of dilatation of the renal pelvis.
HP:0000414	Bulbous nose	Increased volume and globular shape of the anteroinferior aspect of the nose.
HP:0001249	Intellectual disability	Intellectual disability, previously referred to as mental retardation, is characterized by subnormal intellectual functioning that occurs during the developmental period. It is defined by an IQ score below 70.
HP:0000405	Conductive hearing impairment	An abnormality of vibrational conductance of sound to the inner ear leading to impairment of sensory perception of sound.
HP:0025160	Abnormal temper tantrums	Temper tantrums are brief episodes of extreme, unpleasant, and sometimes aggressive behaviors in response to frustration or anger, which are a normal part of development in toddlers. Temper tantrums that occur more frequently in a given time and/or are more severe in symptomatology and/or longer in duration and/or inappropriate for the given age compared to a temper tantrum that naturally occurs as a part of the developmental process are classified as abnormal temper tantrums.
HP:0002714	Downturned corners of mouth	A morphological abnormality of the mouth in which the angle of the mouth is downturned. The oral commissures are positioned inferior to the midline labial fissure.
HP:0000411	Protruding ear	Angle formed by the plane of the ear and the mastoid bone greater than the 97th centile for age (objective); or, outer edge of the helix more than 2 cm from the mastoid at the point of maximum distance (objective).
HP:0001252	Hypotonia	Hypotonia is an abnormally low muscle tone (the amount of tension or resistance to movement in a muscle). Even when relaxed, muscles have a continuous and passive partial contraction which provides some resistance to passive stretching. Hypotonia thus manifests as diminished resistance to passive stretching. Hypotonia is not the same as muscle weakness, although the two conditions can co-exist.
HP:0004220	Short middle phalanx of the 5th finger	Hypoplastic/small middle phalanx of the fifth finger.
HP:0000894	Short clavicles	Reduced length of the clavicles.
HP:0004554	Generalized hypertrichosis	Generalized excessive, abnormal hairiness.
HP:0003593	Infantile onset	Onset of signs or symptoms of disease between 28 days to one year of life.
HP:0000219	Thin upper lip vermilion	Height of the vermilion of the upper lip in the midline more than 2 SD below the mean. Alternatively, an apparently reduced height of the vermilion of the upper lip in the frontal view (subjective).
HP:0045025	Narrow palpebral fissure	Reduction in the vertical distance between the upper and lower eyelids.
HP:0009577	Short middle phalanx of the 2nd finger	Hypoplasia (congenital reduction in size) of the middle phalanx of the second finger, also known as the index finger.
HP:0012871	Varicocele	A varicocele is a widening of the veins along the spermatic cord, leading to enlarged, twisted veins in the scrotum, and manifested clinically by a painless testicle lump, scrotal swelling, or bulge in the scrotum.
HP:0002162	Low posterior hairline	Hair on the neck extends more inferiorly than usual.
HP:0000807	Glandular hypospadias
HP:0000403	Recurrent otitis media	Increased susceptibility to otitis media, as manifested by recurrent episodes of otitis media.
HP:0000358	Posteriorly rotated ears	A type of abnormal location of the ears in which the position of the ears is characterized by posterior rotation (the superior part of the ears is rotated towards the back of the head, and the inferior part of the ears towards the front).
HP:0003774	Stage 5 chronic kidney disease	A degree of kidney failure severe enough to require dialysis or kidney transplantation for survival characterized by a severe reduction in glomerular filtration rate (less than 15 ml/min/1.73 m2) and other manifestations including increased serum creatinine.
HP:0000691	Microdontia	Decreased size of the teeth, which can be defined as a mesiodistal tooth diameter (width) more than 2 SD below mean. Alternatively, an apparently decreased maximum width of tooth.
HP:0000750	Delayed speech and language development	A degree of language development that is significantly below the norm for a child of a specified age.
HP:0000107	Renal cyst	A fluid filled sac in the kidney.
HP:0000426	Prominent nasal bridge	Anterior positioning of the nasal root in comparison to the usual positioning for age.
HP:0000431	Wide nasal bridge	Increased breadth of the nasal bridge (and with it, the nasal root).
HP:0001510	Growth delay	A deficiency or slowing down of growth pre- and postnatally.
HP:0000104	Renal agenesis	Agenesis, that is, failure of the kidney to develop during embryogenesis and development.
HP:0030424	Epididymal cyst	A smooth, extratesticular, spherical cyst in the head of the epididymis.
HP:0001007	Hirsutism	Abnormally increased hair growth referring to a male pattern of body hair (androgenic hair).
HP:0011098	Speech apraxia	A type of apraxia that is characterized by difficulty or inability to execute speech movements because of problems with coordination and motor problems, leading to incorrect articulation. An increase of errors with increasing word and phrase length may occur.
HP:0011304	Broad thumb	Increased thumb width without increased dorso-ventral dimension.
HP:0000470	Short neck	Diminished length of the neck.
HP:0010049	Short metacarpal	Diminished length of one or more metacarpal bones in relation to the others of the same hand or to the contralateral metacarpal.
HP:0000047	Hypospadias	Abnormal position of urethral meatus on the ventral penile shaft (underside) characterized by displacement of the urethral meatus from the tip of the glans penis to the ventral surface of the penis, scrotum, or perineum.
HP:0000113	Polycystic kidney dysplasia	The presence of multiple cysts in both kidneys.
HP:0000126	Hydronephrosis	Severe distention of the kidney with dilation of the renal pelvis and calices.
HP:0001388	Joint laxity	Lack of stability of a joint.
HP:0000486	Strabismus	A misalignment of the eyes so that the visual axes deviate from bifoveal fixation. The classification of strabismus may be based on a number of features including the relative position of the eyes, whether the deviation is latent or manifest, intermittent or constant, concomitant or otherwise and according to the age of onset and the relevance of any associated refractive error.
HP:0001636	Tetralogy of Fallot	A congenital cardiac malformation comprising pulmonary stenosis, overriding aorta, ventricular septum defect, and right ventricular hypertrophy. The diagnosis of TOF is made if at least three of the four above mentioned features are present.
HP:0000343	Long philtrum	Distance between nasal base and midline upper lip vermilion border more than 2 SD above the mean. Alternatively, an apparently increased distance between nasal base and midline upper lip vermilion border.
HP:0002751	Kyphoscoliosis	An abnormal curvature of the spine in both a coronal (lateral) and sagittal (back-to-front) plane.
HP:0001256	Intellectual disability, mild	Mild intellectual disability is defined as an intelligence quotient (IQ) in the range of 50-69.

SFARI (Autism Database) :

Gene Score : 1

Is Not Syndromic

No EAGLE Score

Reports : 8

SGF29 NM_138414.3 Whole gene - Size : 37,875 bases

pLI : 0 LOEUF : 0.82
Location : 28,565,236 - 28,603,111

Database :

DecipherGenomics OMIM:613374 GTEx Portal Human Protein Atlas Ensembl

QPRT NM_014298.6 Whole gene - Size : 35,420 bases

pLI : 0 LOEUF : 1.1 sHet : 0.13 pHaplo : 0.17 pTriplo : 0.16
Location : 29,674,600 - 29,710,020

Database :

DecipherGenomics OMIM:606248 GTEx Portal Human Protein Atlas Ensembl

ITGAD NM_005353.3 Whole gene - Size : 33,170 bases

pLI : 0 LOEUF : 0.87 pHaplo : 0.11 pTriplo : 0.26
Location : 31,404,656 - 31,437,826

Database :

DecipherGenomics OMIM:602453 GTEx Portal Human Protein Atlas Ensembl

RABEP2 NM_024816.3 Whole gene - Size : 32,105 bases

pLI : 0 LOEUF : 0.57 sHet : 0.015 pHaplo : 0.3 pTriplo : 0.53
Location : 28,915,742 - 28,947,847

Database :

DecipherGenomics OMIM:611869 GTEx Portal Human Protein Atlas Ensembl

TLCD3B NM_031478.6 Whole gene - Size : 28,551 bases

pLI : 0.66 LOEUF : 0.52
Location : 30,035,748 - 30,064,299

Database :

DecipherGenomics OMIM:615175 GTEx Portal Human Protein Atlas Ensembl

Human Phenotype Ontology Show/Hide

HP:0007722	Retinal pigment epithelial atrophy	Atrophy (loss or wasting) of the retinal pigment epithelium observed on fundoscopy or fundus imaging.
HP:0000551	Color vision defect	An anomaly in the ability to discriminate between or recognize colors.
HP:0007703	Abnormality of retinal pigmentation
HP:0011504	Bull's eye maculopathy	Progressive maculopathy characterized by concentric regions of hyper- and hypo-pigmentation.
HP:0030631	Hyperautofluorescent macular lesion	Increased amount of autofluorescence in the macula as ascertained by fundus autofluorescence imaging.
HP:0007663	Reduced visual acuity
HP:0000505	Visual impairment	Visual impairment (or vision impairment) is vision loss (of a person) to such a degree as to qualify as an additional support need through a significant limitation of visual capability resulting from either disease, trauma, or congenital or degenerative conditions that cannot be corrected by conventional means, such as refractive correction, medication, or surgery.
HP:0000662	Nyctalopia	Inability to see well at night or in poor light.
HP:0007843	Attenuation of retinal blood vessels
HP:0030844	Undetectable pattern electroretinogram	Absent response to a pattern electroretinogram (PERG).
HP:0003621	Juvenile onset	Onset of signs or symptoms of disease between the age of 5 and 15 years.
HP:0030825	Absent foveal reflex	Lack of the foveal reflex, which normally occurs as a result of the reflection of light from the ophthalmoscope in the foveal pit upon examination. The foveal reflex is a bright pinpoint of light that is observed to move sideways or up and down in response to movement of the opthalmoscope.
HP:0025159	Hypoautofluorescent retinal lesion	Decreased amount of autofluorescence in the retina as ascertained by fundus autofluorescence imaging.
HP:0000007	Autosomal recessive inheritance	A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
HP:0000613	Photophobia	Excessive sensitivity to light with the sensation of discomfort or pain in the eyes due to exposure to bright light.
HP:0030629	Perifoveal ring of hyperautofluorescence
HP:0011462	Young adult onset	Onset of disease at the age of between 16 and 40 years.

SEZ6L2 NM_001243332.2 Whole gene - Size : 28,391 bases

pLI : 0.12 LOEUF : 0.42 sHet : 0.07 pHaplo : 0.22 pTriplo : 0.69
Location : 29,882,480 - 29,910,871

Database :

DecipherGenomics PanelApp OMIM:616667 GTEx Portal Human Protein Atlas Ensembl

SFARI (Autism Database) :

Gene Score : 2

Is Not Syndromic

No EAGLE Score

Reports : 6

ITGAX NM_000887.5 Whole gene - Size : 27,865 bases

pLI : 0 LOEUF : 0.72 sHet : 0.011 pHaplo : 0.29 pTriplo : 0.12
Location : 31,366,455 - 31,394,320

Database :

DecipherGenomics OMIM:151510 GTEx Portal Human Protein Atlas Ensembl

MVP NM_005115.5 Whole gene - Size : 27,645 bases

pLI : 0 LOEUF : 0.73 sHet : 0.006 pHaplo : 0.16 pTriplo : 0.67
Location : 29,831,715 - 29,859,360

Database :

DecipherGenomics OMIM:605088 GTEx Portal Human Protein Atlas Ensembl

SH2B1 NM_001387430.1 Whole gene - Size : 27,612 bases

pLI : 1 LOEUF : 0.23 sHet : 0.101 pHaplo : 0.5 pTriplo : 0.96
Location : 28,857,921 - 28,885,533

Disease : Severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiency

Source : Orphanet

Database :

DecipherGenomics PanelApp OMIM:608937 Orphanet:329249 HGNC:30417 PMID:23160192 GTEx Portal Human Protein Atlas Ensembl

Human Phenotype Ontology Show/Hide

HP:0011968	Feeding difficulties	Impaired ability to eat related to problems gathering food and getting ready to suck, chew, or swallow it.
HP:0002020	Gastroesophageal reflux	A condition in which the stomach contents leak backwards from the stomach into the esophagus through the lower esophageal sphincter.
HP:0000717	Autism	Autism is a neurodevelopmental disorder characterized by impaired social interaction and communication, and by restricted and repetitive behavior. Autism begins in childhood. It is marked by the presence of markedly abnormal or impaired development in social interaction and communication and a markedly restricted repertoire of activity and interest. Manifestations of the disorder vary greatly depending on the developmental level and chronological age of the individual (DSM-IV).
HP:0000294	Low anterior hairline	Distance between the hairline (trichion) and the glabella (the most prominent point on the frontal bone above the root of the nose), in the midline, more than two SD below the mean. Alternatively, an apparently decreased distance between the hairline and the glabella.
HP:0001250	Seizure	A seizure is an intermittent abnormality of nervous system physiology characterised by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain.
HP:0000733	Abnormal repetitive mannerisms	Use of the same abnormal action in response to certain triggers or at random. They may be used as a way to regulate one's internal state but must otherwise have no apparent functional purpose.
HP:0000175	Cleft palate	Cleft palate is a developmental defect of the palate resulting from a failure of fusion of the palatine processes and manifesting as a separation of the roof of the mouth (soft and hard palate).
HP:0003077	Hyperlipidemia	An elevated lipid concentration in the blood.
HP:0000735	Impaired social interactions	Difficulty interacting with others through emotional, physical, or verbal communication.
HP:0001646	Abnormal aortic valve morphology	Any abnormality of the aortic valve.
HP:0002910	Elevated hepatic transaminase	Elevations of the levels of SGOT and SGPT in the serum. SGOT (serum glutamic oxaloacetic transaminase) and SGPT (serum glutamic pyruvic transaminase) are transaminases primarily found in the liver and heart and are released into the bloodstream as the result of liver or heart damage. SGOT and SGPT are used clinically mainly as markers of liver damage.
HP:0001161	Hand polydactyly	A kind of polydactyly characterized by the presence of a supernumerary finger or fingers.
HP:0011800	Midface retrusion	Posterior positions and/or vertical shortening of the infraorbital and perialar regions, or increased concavity of the face and/or reduced nasolabial angle.
HP:0002119	Ventriculomegaly	An increase in size of the ventricular system of the brain.
HP:0000708	Atypical behavior	Atypical behavior is an abnormality in a person's actions, which can be controlled or modulated by the will of the individual. While abnormal behaviors can be difficult to control, they are distinct from other abnormal actions that cannot be affected by the individual's will.
HP:0000556	Retinal dystrophy	Retinal dystrophy is an abnormality of the retina associated with a hereditary process. Retinal dystrophies are defined by their predominantly monogenic inheritance and they are frequently associated with loss or dysfunction of photoreceptor cells as a primary or secondary event.
HP:0000347	Micrognathia	Developmental hypoplasia of the mandible.
HP:0000337	Broad forehead	Width of the forehead or distance between the frontotemporales is more than two standard deviations above the mean (objective); or apparently increased distance between the two sides of the forehead.
HP:0008763	No social interaction	Lack of intentional participation in interactions with another person.
HP:0000076	Vesicoureteral reflux	Abnormal (retrograde) movement of urine from the bladder into ureters or kidneys related to inadequacy of the valvular mechanism at the ureterovesicular junction or other causes.
HP:0000256	Macrocephaly	Occipitofrontal (head) circumference greater than 97th centile compared to appropriate, age matched, sex-matched normal standards. Alternatively, a apparently increased size of the cranium.
HP:0002691	Platybasia	A developmental malformation of the occipital bone and upper end of the cervical spine, in which the latter appears to have pushed the floor of the occipital bone upward such that there is an abnormal flattening of the skull base.
HP:0000729	Autistic behavior	Persistent deficits in social interaction and communication and interaction as well as a markedly restricted repertoire of activity and interest as well as repetitive patterns of behavior.
HP:0001266	Choreoathetosis	Involuntary movements characterized by both athetosis (inability to sustain muscles in a fixed position) and chorea (widespread jerky arrhythmic movements).
HP:0001508	Failure to thrive	Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm.
HP:0001319	Neonatal hypotonia	Muscular hypotonia (abnormally low muscle tone) manifesting in the neonatal period.
HP:0007166	Paroxysmal dyskinesia	Episodic bouts of involuntary movements with dystonic, choreic, ballistic movements, or a combination thereof. There is no loss of consciousness during the attacks.
HP:0002808	Kyphosis	Exaggerated anterior convexity of the thoracic vertebral column.
HP:0006863	Severe expressive language delay	A severe delay in the acquisition of the ability to use language to communicate needs, wishes, or thoughts.
HP:0004322	Short stature	A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to "short stature" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms).
HP:0000003	Multicystic kidney dysplasia	Multicystic dysplasia of the kidney is characterized by multiple cysts of varying size in the kidney and the absence of a normal pelvicaliceal system. The condition is associated with ureteral or ureteropelvic atresia, and the affected kidney is nonfunctional.
HP:0002251	Aganglionic megacolon	An abnormality resulting from a lack of intestinal ganglion cells (i.e., an aganglionic section of bowel) that results in bowel obstruction with enlargement of the colon.
HP:0002149	Hyperuricemia	An abnormally high level of uric acid in the blood.
HP:0002650	Scoliosis	The presence of an abnormal lateral curvature of the spine.
HP:0001249	Intellectual disability	Intellectual disability, previously referred to as mental retardation, is characterized by subnormal intellectual functioning that occurs during the developmental period. It is defined by an IQ score below 70.
HP:0000405	Conductive hearing impairment	An abnormality of vibrational conductance of sound to the inner ear leading to impairment of sensory perception of sound.
HP:0000902	Rib fusion	Complete or partial merging of adjacent ribs.
HP:0000776	Congenital diaphragmatic hernia	The presence of a hernia of the diaphragm present at birth.
HP:0009088	Speech articulation difficulties	Impairment in the physical production of speech sounds.
HP:0410263	Brain imaging abnormality	An anomaly of metabolism or structure of the brain identified by imaging.
HP:0001513	Obesity	Accumulation of substantial excess body fat.
HP:0002280	Enlarged cisterna magna	Increase in size of the cisterna magna, one of three principal openings in the subarachnoid space between the arachnoid and pia mater, located between the cerebellum and the dorsal surface of the medulla oblongata.
HP:0007099	Chiari type I malformation	Arnold-Chiari type I malformation refers to a relatively mild degree of herniation of the posteroinferior region of the cerebellum (the cerebellar tonsils) into the cervical canal with little or no displacement of the fourth ventricle. It is characterized by one or both pointed (not rounded) cerebellar tonsils that project 5 mm below the foramen magnum, measured by a line drawn from the basion to the opisthion (McRae Line)
HP:0001328	Specific learning disability	Impairment of certain skills such as reading or writing, coordination, self-control, or attention that interfere with the ability to learn. The impairment is not related to a global deficiency of intelligence.
HP:0000407	Sensorineural hearing impairment	A type of hearing impairment in one or both ears related to an abnormal functionality of the cochlear nerve.
HP:0001270	Motor delay	A type of Developmental delay characterized by a delay in acquiring motor skills.
HP:0000510	Rod-cone dystrophy	An inherited retinal disease subtype in which the rod photoreceptors appear to be more severely affected than the cone photoreceptors. Typical presentation is with nyctalopia (due to rod dysfunction) followed by loss of mid-peripheral field of vision, which gradually extends and leaves many patients with a small central island of vision due to the preservation of macular cones.
HP:0000718	Aggressive behavior	Behavior or an act aimed at harming a person, animal, or physical property (e.g., acts of physical violence; shouting, swearing, and using harsh language; slashing someone's tires).
HP:0012450	Chronic constipation	Constipation for longer than three months with fewer than 3 bowel movements per week, straining, lumpy or hard stools, and a sensation of anorectal obstruction or incomplete defecation.
HP:0001166	Arachnodactyly	Abnormally long and slender fingers ("spider fingers").
HP:0000842	Hyperinsulinemia	An increased concentration of insulin in the blood.
HP:0011351	Moderate receptive language delay	A moderate delay in the acquisition of the ability to understand the speech of others.
HP:0002021	Pyloric stenosis	Pyloric stenosis, also known as infantile hypertrophic pyloric stenosis, is an uncommon condition in infants characterized by abnormal thickening of the pylorus muscles in the stomach leading to gastric outlet obstruction. Clinically infants are well at birth. Then, at 3 to 6 weeks of age, the infants present with projectile vomiting, potentially leading to dehydration and weight loss.
HP:0001631	Atrial septal defect	Atrial septal defect (ASD) is a congenital abnormality of the interatrial septum that enables blood flow between the left and right atria via the interatrial septum.
HP:0000750	Delayed speech and language development	A degree of language development that is significantly below the norm for a child of a specified age.
HP:0000077	Abnormality of the kidney	An abnormality of the kidney.
HP:0100702	Arachnoid cyst	An extra-parenchymal and intra-arachnoidal collection of fluid with a composition similar to that of cerebrospinal fluid.
HP:0001263	Global developmental delay	A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. This term should only be used to describe children younger than five years of age.
HP:0000426	Prominent nasal bridge	Anterior positioning of the nasal root in comparison to the usual positioning for age.
HP:0000160	Narrow mouth	Distance between the commissures of the mouth more than 2 SD below the mean. Alternatively, an apparently decreased width of the oral aperture (subjective).
HP:0000104	Renal agenesis	Agenesis, that is, failure of the kidney to develop during embryogenesis and development.
HP:0011098	Speech apraxia	A type of apraxia that is characterized by difficulty or inability to execute speech movements because of problems with coordination and motor problems, leading to incorrect articulation. An increase of errors with increasing word and phrase length may occur.
HP:0001651	Dextrocardia	The heart is located in the right hand sided hemithorax. That is, there is a left-right reversal (or "mirror reflection") of the anatomical location of the heart in which the heart is locate on the right side instead of the left.
HP:0000093	Proteinuria	Increased levels of protein in the urine.
HP:0007018	Attention deficit hyperactivity disorder	Attention deficit hyperactivity disorder (ADHD) manifests at age 2-3 years or by first grade at the latest. The main symptoms are distractibility, impulsivity, hyperactivity, and often trouble organizing tasks and projects, difficulty going to sleep, and social problems from being aggressive, loud, or impatient.
HP:0001999	Abnormal facial shape	An abnormal morphology (form) of the face or its components.
HP:0012622	Chronic kidney disease	Functional anomaly of the kidney persisting for at least three months.
HP:0003074	Hyperglycemia	An increased concentration of glucose in the blood.
HP:0003468	Abnormal vertebral morphology	An abnormality of one or more of the vertebrae.
HP:0000316	Hypertelorism	Interpupillary distance more than 2 SD above the mean (alternatively, the appearance of an increased interpupillary distance or widely spaced eyes).
HP:0000300	Oval face	A face with a rounded and slightly elongated outline.
HP:0003396	Syringomyelia	Dilated, glial-lined cavity in spinal cord. This cavity does not communicate with the central canal, and usually is between the dorsal columns unilaterally or bilaterally along the side of the cord.
HP:0002591	Polyphagia	A neurological anomaly with gross overeating associated with an abnormally strong desire or need to eat.
HP:0002076	Migraine	Migraine is a chronic neurological disorder characterized by episodic attacks of headache and associated symptoms.
HP:0001627	Abnormal heart morphology	Any structural anomaly of the heart.
HP:0001363	Craniosynostosis	Craniosynostosis refers to the premature closure of the cranial sutures. Primary craniosynostosis refers to the closure of one or more sutures due to abnormalities in skull development, and secondary craniosynostosis results from failure of brain growth.
HP:0001332	Dystonia	An abnormally increased muscular tone that causes fixed abnormal postures. There is a slow, intermittent twisting motion that leads to exaggerated turning and posture of the extremities and trunk.
HP:0001256	Intellectual disability, mild	Mild intellectual disability is defined as an intelligence quotient (IQ) in the range of 50-69.

SETD1A NM_014712.3 Whole gene - Size : 26,910 bases

pLI : 1 LOEUF : 0.14 sHet : 0.208 pHaplo : 0.95 pTriplo : 1
Location : 30,969,075 - 30,995,985

Disease : intellectual disability

Source : DDG2P

Database :

DecipherGenomics PanelApp OMIM:611052 GTEx Portal Human Protein Atlas Ensembl

Human Phenotype Ontology Show/Hide

HP:0003593	Infantile onset	Onset of signs or symptoms of disease between 28 days to one year of life.
HP:0011968	Feeding difficulties	Impaired ability to eat related to problems gathering food and getting ready to suck, chew, or swallow it.
HP:0001270	Motor delay	A type of Developmental delay characterized by a delay in acquiring motor skills.
HP:0000293	Full cheeks	Increased prominence or roundness of soft tissues between zygomata and mandible.
HP:0001290	Generalized hypotonia	Generalized muscular hypotonia (abnormally low muscle tone).
HP:0010803	Everted upper lip vermilion	Inner aspect of the upper lip vermilion (normally apposing the teeth) visible in a frontal view, i.e., the presence of an everted upper lip.
HP:0100753	Schizophrenia	A mental disorder characterized by a disintegration of thought processes and emotional responsiveness. It most commonly manifests as auditory hallucinations, paranoid or bizarre delusions, or disorganized speech and thinking. It is accompanied by significant social or occupational dysfunction. The onset of symptoms typically occurs in young adulthood, with a global lifetime prevalence of about 1%. This term is not a helpful parent term to describe abnormal experiences.
HP:0000718	Aggressive behavior	Behavior or an act aimed at harming a person, animal, or physical property (e.g., acts of physical violence; shouting, swearing, and using harsh language; slashing someone's tires).
HP:0001250	Seizure	A seizure is an intermittent abnormality of nervous system physiology characterised by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain.
HP:0000369	Low-set ears	Upper insertion of the ear to the scalp below an imaginary horizontal line drawn between the inner canthi of the eye and extending posteriorly to the ear.
HP:0012450	Chronic constipation	Constipation for longer than three months with fewer than 3 bowel movements per week, straining, lumpy or hard stools, and a sensation of anorectal obstruction or incomplete defecation.
HP:0000739	Anxiety	Intense feelings of nervousness, tension, or panic often arise in response to interpersonal stresses. There is worry about the negative effects of past unpleasant experiences and future negative possibilities. Individuals may feel fearful, apprehensive, or threatened by uncertainty, and they may also have fears of falling apart or losing control.
HP:0001562	Oligohydramnios	Diminished amniotic fluid volume in pregnancy.
HP:0000736	Short attention span	Reduced attention span characterized by distractibility and impulsivity.
HP:0000750	Delayed speech and language development	A degree of language development that is significantly below the norm for a child of a specified age.
HP:0000256	Macrocephaly	Occipitofrontal (head) circumference greater than 97th centile compared to appropriate, age matched, sex-matched normal standards. Alternatively, a apparently increased size of the cranium.
HP:0000729	Autistic behavior	Persistent deficits in social interaction and communication and interaction as well as a markedly restricted repertoire of activity and interest as well as repetitive patterns of behavior.
HP:0000365	Hearing impairment	A decreased magnitude of the sensory perception of sound.
HP:0000034	Hydrocele testis	Accumulation of clear fluid in the between the layers of membrane (tunica vaginalis) surrounding the testis.
HP:0001263	Global developmental delay	A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. This term should only be used to describe children younger than five years of age.
HP:0000286	Epicanthus	A fold of skin starting above the medial aspect of the upper eyelid and arching downward to cover, pass in front of and lateral to the medial canthus.
HP:0008551	Microtia	Underdevelopment of the external ear.
HP:0000348	High forehead	An abnormally increased height of the forehead.
HP:0000490	Deeply set eye	An eye that is more deeply recessed into the plane of the face than is typical.
HP:0000687	Widely spaced teeth	Increased spaces (diastemata) between most of the teeth in the same dental arch.
HP:0000154	Wide mouth	Distance between the oral commissures more than 2 SD above the mean. Alternatively, an apparently increased width of the oral aperture (subjective).
HP:0004322	Short stature	A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to "short stature" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms).
HP:0000494	Downslanted palpebral fissures	The palpebral fissure inclination is more than two standard deviations below the mean.
HP:0000463	Anteverted nares	Anteriorly-facing nostrils viewed with the head in the Frankfurt horizontal and the eyes of the observer level with the eyes of the subject. This gives the appearance of an upturned nose (upturned nasal tip).
HP:0011463	Childhood onset	Onset of disease at the age of between 1 and 5 years.
HP:0000505	Visual impairment	Visual impairment (or vision impairment) is vision loss (of a person) to such a degree as to qualify as an additional support need through a significant limitation of visual capability resulting from either disease, trauma, or congenital or degenerative conditions that cannot be corrected by conventional means, such as refractive correction, medication, or surgery.
HP:0000006	Autosomal dominant inheritance	A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
HP:0002069	Bilateral tonic-clonic seizure	A bilateral tonic-clonic seizure is a seizure defined by a tonic (bilateral increased tone, lasting seconds to minutes) and then a clonic (bilateral sustained rhythmic jerking) phase.
HP:0000316	Hypertelorism	Interpupillary distance more than 2 SD above the mean (alternatively, the appearance of an increased interpupillary distance or widely spaced eyes).
HP:0002188	Delayed CNS myelination	Delayed myelination in the central nervous system.
HP:0001249	Intellectual disability	Intellectual disability, previously referred to as mental retardation, is characterized by subnormal intellectual functioning that occurs during the developmental period. It is defined by an IQ score below 70.
HP:0001655	Patent foramen ovale	Failure of the foramen ovale to seal postnatally, leaving a potential conduit between the left and right cardiac atria.
HP:0001363	Craniosynostosis	Craniosynostosis refers to the premature closure of the cranial sutures. Primary craniosynostosis refers to the closure of one or more sutures due to abnormalities in skull development, and secondary craniosynostosis results from failure of brain growth.
HP:0002719	Recurrent infections	Increased susceptibility to infections.
HP:0001382	Joint hypermobility	The ability of a joint to move beyond its normal range of motion.
HP:0000445	Wide nose	Interalar distance more than two standard deviations above the mean for age, i.e., an apparently increased width of the nasal base and alae.
HP:0001513	Obesity	Accumulation of substantial excess body fat.

SFARI (Autism Database) :

Gene Score : 1

Is Not Syndromic

EAGLE Score : 4.35

Reports : 7

ATP2A1 NM_004320.6 Whole gene - Size : 26,061 bases

pLI : 0 LOEUF : 0.85 sHet : 0.005 pHaplo : 0.55 pTriplo : 0.37
Location : 28,889,726 - 28,915,787

Disease : Brody myopathy

Source : Orphanet

Database :

DecipherGenomics PanelApp OMIM:108730 Orphanet:53347 HGNC:811 PMID:10914677 GTEx Portal Human Protein Atlas Ensembl

Human Phenotype Ontology Show/Hide

HP:0100284	EMG: myotonic discharges	High frequency discharges in electromyography (EMG) that vary in amplitude and frequency, waxing and waning continuously with firing frequencies ranging from 150/second down to 20/second and producing a sound that has been referred to as a dive bomber sound.
HP:0003623	Neonatal onset	Onset of signs or symptoms of disease within the first 28 days of life.
HP:0003710	Exercise-induced muscle cramps	Sudden and involuntary contractions of one or more muscles brought on by physical exertion.
HP:0001270	Motor delay	A type of Developmental delay characterized by a delay in acquiring motor skills.
HP:0002047	Malignant hyperthermia	Malignant hyperthermia is characterized by a rapid increase in temperature to 39-42 degrees C. Malignant hyperthermia may occur in response to either inhalational anesthetics such as halothane, to muscle relaxants such as succinylcholine, or to exercise.
HP:0001371	Flexion contracture	A flexion contracture is a bent (flexed) joint that cannot be straightened actively or passively. It is thus a chronic loss of joint motion due to structural changes in muscle, tendons, ligaments, or skin that prevents normal movement of joints.
HP:0001324	Muscle weakness	Reduced strength of muscles.
HP:0011463	Childhood onset	Onset of disease at the age of between 1 and 5 years.
HP:0003474	Somatic sensory dysfunction	An abnormality of the primary sensation that is mediated by peripheral nerves (pain, temperature, touch, vibration, joint position). The word hypoesthesia (or hypesthesia) refers to a reduction in cutaneous sensation to a specific type of testing.
HP:0031826	Abnormal reflex	Any anomaly of a reflex, i.e., of an automatic response mediated by the nervous system (a reflex does not need the intervention of conscious thought to occur).
HP:0002380	Fasciculations	Fasciculations are observed as small, local, involuntary muscle contractions (twitching) visible under the skin. Fasciculations result from increased irritability of an axon (which in turn is often a manifestation of disease of a motor neuron). This leads to sporadic discharges of all the muscle fibers controlled by the axon in isolation from other motor units.
HP:0003326	Myalgia	Pain in muscle.
HP:0002411	Myokymia	Myokymia consists of involuntary, fine, continuous, undulating contractions that spread across the affected striated muscle.
HP:0009046	Difficulty running	Reduced ability to run.
HP:0008967	Exercise-induced muscle stiffness	A type of muscle stiffness that occurs following physical exertion.
HP:0010548	Percussion myotonia	A localized myotonic contraction in a muscle in reaction to percussion (tapping with the examiner's finger, a rubber percussion hammer, or a similar object).
HP:0003712	Skeletal muscle hypertrophy	Abnormal increase in muscle size and mass not due to training.
HP:0000007	Autosomal recessive inheritance	A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
HP:0002486	Myotonia	An involuntary and painless delay in the relaxation of skeletal muscle following contraction or electrical stimulation.

FBXL19 NM_001382779.1 Whole gene - Size : 25,728 bases

pLI : 1 LOEUF : 0.1 pHaplo : 0.86 pTriplo : 1
Location : 30,934,376 - 30,960,104

Database :

DecipherGenomics OMIM:609085 GTEx Portal Human Protein Atlas Ensembl

CLN3 NM_001042432.2 Whole gene - Size : 21,464 bases

pLI : 0 LOEUF : 0.91 sHet : 0.007 pHaplo : 0.18 pTriplo : 0.31
Location : 28,485,432 - 28,506,896

Disease : CLN3 disease

Source : Orphanet

Database :

DecipherGenomics PanelApp OMIM:607042 Orphanet:228346 HGNC:2074 PMID:21990111 GTEx Portal Human Protein Atlas Ensembl

Human Phenotype Ontology Show/Hide

HP:0000501	Glaucoma	Glaucoma refers loss of retinal ganglion cells in a characteristic pattern of optic neuropathy usually associated with increased intraocular pressure.
HP:0001250	Seizure	A seizure is an intermittent abnormality of nervous system physiology characterised by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain.
HP:0002360	Sleep abnormality	An abnormal pattern in the quality, quantity, or characteristics of sleep.
HP:0007663	Reduced visual acuity
HP:0000739	Anxiety	Intense feelings of nervousness, tension, or panic often arise in response to interpersonal stresses. There is worry about the negative effects of past unpleasant experiences and future negative possibilities. Individuals may feel fearful, apprehensive, or threatened by uncertainty, and they may also have fears of falling apart or losing control.
HP:0002015	Dysphagia	Difficulty in swallowing.
HP:0002067	Bradykinesia	Bradykinesia literally means slow movement, and is used clinically to denote a slowness in the execution of movement (in contrast to hypokinesia, which is used to refer to slowness in the initiation of movement).
HP:0003621	Juvenile onset	Onset of signs or symptoms of disease between the age of 5 and 15 years.
HP:0003205	Curvilinear intracellular accumulation of autofluorescent lipopigment storage material	An intracellular accumulation of autofluorescent lipopigment storage material in a curved pattern.
HP:0001922	Vacuolated lymphocytes	The presence of clear, sharply defined vacuoles in the lymphocyte cytoplasm.
HP:0010872	T-wave inversion	An inversion of the T-wave (which is normally positive).
HP:0000580	Pigmentary retinopathy	An abnormality of the retina characterized by pigment deposition. It is typically associated with migration and proliferation of macrophages or retinal pigment epithelial cells into the retina; melanin from these cells causes the pigmentary changes. Pigmentary retinopathy is a common final pathway of many retinal conditions and is often associated with visual loss.
HP:0001583	Rotary nystagmus	A form of nystagmus in which the eyeball makes rotary motions around the axis.
HP:0000007	Autosomal recessive inheritance	A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
HP:0032794	Myoclonic seizure	A myoclonic seizure is a type of motor seizure characterised by sudden, brief (<100 ms) involuntary single or multiple contraction of muscles or muscle groups of variable topography (axial, proximal limb, distal). Myoclonus is less regularly repetitive and less sustained than is clonus.
HP:0002059	Cerebral atrophy	Atrophy (wasting, decrease in size of cells or tissue) affecting the cerebrum.
HP:0000646	Amblyopia	Reduced visual acuity that is uncorrectable by lenses in the absence of detectable anatomic defects in the eye or visual pathways.
HP:0001317	Abnormal cerebellum morphology	Any structural abnormality of the cerebellum.
HP:0001251	Ataxia	Cerebellar ataxia refers to ataxia due to dysfunction of the cerebellum. This causes a variety of elementary neurological deficits including asynergy (lack of coordination between muscles, limbs and joints), dysmetria (lack of ability to judge distances that can lead to under- or overshoot in grasping movements), and dysdiadochokinesia (inability to perform rapid movements requiring antagonizing muscle groups to be switched on and off repeatedly).
HP:0030348	Increased circulating androgen concentration	An elevation of the blood concentration of an androgen, that is, of a steroid hormone that controls development and maintenance of masculine characteristics. The androgens include testosterone and Dehydroepiandrosterone.
HP:0000518	Cataract	A cataract is an opacity or clouding that develops in the crystalline lens of the eye or in its capsule.
HP:0001272	Cerebellar atrophy	Cerebellar atrophy is defined as a cerebellum with initially normal structures, in a posterior fossa with normal size, which displays enlarged fissures (interfolial spaces) in comparison to the foliae secondary to loss of tissue. Cerebellar atrophy implies irreversible loss of tissue and result from an ongoing progressive disease until a final stage is reached or a single injury, e.g. an intoxication or infectious event.
HP:0001249	Intellectual disability	Intellectual disability, previously referred to as mental retardation, is characterized by subnormal intellectual functioning that occurs during the developmental period. It is defined by an IQ score below 70.
HP:0000529	Progressive visual loss	A reduction of previously attained ability to see.
HP:0001712	Left ventricular hypertrophy	Enlargement or increased size of the heart left ventricle.
HP:0007076	Extrapyramidal muscular rigidity	Muscular rigidity (continuous contraction of muscles with constant resistance to passive movement).
HP:0002071	Abnormality of extrapyramidal motor function	A neurological condition related to lesions of the basal ganglia leading to typical abnormalities including akinesia (inability to initiate changes in activity and perform volitional movements rapidly and easily), muscular rigidity (continuous contraction of muscles with constant resistance to passive movement), chorea (widespread arrhythmic movements of a forcible, rapid, jerky, and restless nature), athetosis (inability to sustain the muscles of the fingers, toes, or other group of muscles in a fixed position), and akathisia (inability to remain motionless).
HP:0000726	Dementia	A loss of global cognitive ability of sufficient amount to interfere with normal social or occupational function. Dementia represents a loss of previously present cognitive abilities, generally in adults, and can affect memory, thinking, language, judgment, and behavior.
HP:0000608	Macular degeneration	A nonspecific term denoting degeneration of the retinal pigment epithelium and/or retinal photoreceptor cells of the macula lutea.
HP:0002354	Memory impairment	An impairment of memory as manifested by a reduced ability to remember things such as dates and names, and increased forgetfulness.
HP:0000510	Rod-cone dystrophy	An inherited retinal disease subtype in which the rod photoreceptors appear to be more severely affected than the cone photoreceptors. Typical presentation is with nyctalopia (due to rod dysfunction) followed by loss of mid-peripheral field of vision, which gradually extends and leaves many patients with a small central island of vision due to the preservation of macular cones.
HP:0007359	Focal-onset seizure	A focal-onset seizure is a type of seizure originating within networks limited to one hemisphere. They may be discretely localized or more widely distributed, and may originate in subcortical structures.
HP:0000709	Psychosis	A condition characterized by changes in personality and thought patterns, often accompanied by hallucinations and delusional beliefs, is known as psychosis.
HP:0002074	Increased neuronal autofluorescent lipopigment	Lipofuscin, a generic term applied to autofluorescent lipopigment, is a mixture of protein and lipid that accumulates in most aging cells, particularly those involved in high lipid turnover (e.g., the adrenal medulla) or phagocytosis of other cell types (e g., the retinal pigment epithelium or RPE; macrophage). This term pertains if there is an increase in the neuronal accumulation of lipofuscin (also known as autofluorescent lipoprotein) more than expected for the age of the patient.
HP:0000718	Aggressive behavior	Behavior or an act aimed at harming a person, animal, or physical property (e.g., acts of physical violence; shouting, swearing, and using harsh language; slashing someone's tires).
HP:0011504	Bull's eye maculopathy	Progressive maculopathy characterized by concentric regions of hyper- and hypo-pigmentation.
HP:0002367	Visual hallucination	Visual perception in the absence of a visual stimulus.
HP:0001260	Dysarthria	Dysarthric speech is a general description referring to a neurological speech disorder characterized by poor articulation. Depending on the involved neurological structures, dysarthria may be further classified as spastic, flaccid, ataxic, hyperkinetic and hypokinetic, or mixed.
HP:0002362	Shuffling gait	A type of gait (walking) characterized by by dragging one's feet along or without lifting the feet fully from the ground.
HP:0007058	Generalized cerebral atrophy/hypoplasia	Generalized atrophy or hypoplasia of the cerebrum.
HP:0005157	Concentric hypertrophic cardiomyopathy	Hypertrophic cardiomyopathy with an symmetrical and concentric pattern of hypertrophy.
HP:0001662	Bradycardia	A slower than normal heart rate (in adults, slower than 60 beats per minute).
HP:0000550	Undetectable electroretinogram	Lack of any response to stimulation upon electroretinography.
HP:0002839	Urinary bladder sphincter dysfunction	Abnormal function of a sphincter of the urinary bladder.
HP:0001300	Parkinsonism	Characteristic neurologic anomaly resulting from degeneration of dopamine-generating cells in the substantia nigra, a region of the midbrain, characterized clinically by shaking, rigidity, slowness of movement and difficulty with walking and gait.
HP:0003463	Increased extraneuronal autofluorescent lipopigment	Lipofuscin, a generic term applied to autofluorescent lipopigment, is a mixture of protein and lipid that accumulates in most aging cells, particularly those involved in high lipid turnover (e.g., the adrenal medulla) or phagocytosis of other cell types (e g., the retinal pigment epithelium or RPE; macrophage). This term pertains if there is an increase in the extraneuronal accumulation of lipofuscin (also known as autofluorescent lipoprotein) more than expected for the age of the patient.
HP:0001007	Hirsutism	Abnormally increased hair growth referring to a male pattern of body hair (androgenic hair).
HP:0002361	Psychomotor deterioration	Loss of previously present mental and motor abilities.
HP:0000648	Optic atrophy	Atrophy of the optic nerve. Optic atrophy results from the death of the retinal ganglion cell axons that comprise the optic nerve and manifesting as a pale optic nerve on fundoscopy.
HP:0001336	Myoclonus	Very brief, involuntary random muscular contractions occurring at rest, in response to sensory stimuli, or accompanying voluntary movements.
HP:0002069	Bilateral tonic-clonic seizure	A bilateral tonic-clonic seizure is a seizure defined by a tonic (bilateral increased tone, lasting seconds to minutes) and then a clonic (bilateral sustained rhythmic jerking) phase.
HP:0000716	Depression	Frequently experiencing feelings of being down, miserable, and/or hopeless; struggling to recover from these moods; having a pessimistic outlook on the future; feeling a pervasive sense of shame; having a low self-worth; experiencing thoughts of suicide and engaging in suicidal behavior.
HP:0001268	Mental deterioration	Loss of previously present mental abilities, generally in adults.
HP:0000546	Retinal degeneration	A nonspecific term denoting degeneration of the retinal pigment epithelium and/or retinal photoreceptor cells.
HP:0002505	Loss of ambulation	Inability to walk in a person who previous had the ability to walk.
HP:0000618	Blindness	Blindness is the condition of lacking visual perception defined as visual perception below 3/60 and/or a visual field of no greater than 10 degrees in radius around central fixation.
HP:0001061	Acne	A skin condition in which there is an increase in sebum secretion by the pilosebaceous apparatus associated with open comedones (blackheads), closed comedones (whiteheads), and pustular nodules (papules, pustules, and cysts).
HP:0003208	Fingerprint intracellular accumulation of autofluorescent lipopigment storage material	An intracellular accumulation of autofluorescent lipopigment storage material in a trabecular or fingerprint-like pattern.

ZNF689 NM_138447.3 Whole gene - Size : 21,454 bases

pLI : 0.42 LOEUF : 0.5 sHet : 0.056 pHaplo : 0.17 pTriplo : 0.82
Location : 30,613,879 - 30,635,333

Database :

DecipherGenomics OMIM:618033 GTEx Portal Human Protein Atlas Ensembl

STX1B NM_052874.5 Whole gene - Size : 21,382 bases

pLI : 0.99 LOEUF : 0.27 sHet : 0.065 pHaplo : 0.36 pTriplo : 0.91
Location : 31,000,577 - 31,021,959

Disease : Generalized epilepsy with febrile seizures-plus

Source : Orphanet

Database :

DecipherGenomics PanelApp OMIM:601485 Orphanet:36387 HGNC:18539 PMID:25362483 GTEx Portal Human Protein Atlas Ensembl

Human Phenotype Ontology Show/Hide

HP:0003593	Infantile onset	Onset of signs or symptoms of disease between 28 days to one year of life.
HP:0007359	Focal-onset seizure	A focal-onset seizure is a type of seizure originating within networks limited to one hemisphere. They may be discretely localized or more widely distributed, and may originate in subcortical structures.
HP:0002197	Generalized-onset seizure	A generalized-onset seizure is a type of seizure originating at some point within, and rapidly engaging, bilaterally distributed networks. The networks may include cortical and subcortical structures but not necessarily the entire cortex.
HP:0007010	Poor fine motor coordination	An abnormality of the ability (skills) to perform a precise movement of small muscles with the intent to perform a specific act. Fine motor skills are required to mediate movements of the wrists, hands, fingers, feet, and toes.
HP:0007058	Generalized cerebral atrophy/hypoplasia	Generalized atrophy or hypoplasia of the cerebrum.
HP:0002539	Cortical dysplasia	The presence of developmental dysplasia of the cerebral cortex.
HP:0000739	Anxiety	Intense feelings of nervousness, tension, or panic often arise in response to interpersonal stresses. There is worry about the negative effects of past unpleasant experiences and future negative possibilities. Individuals may feel fearful, apprehensive, or threatened by uncertainty, and they may also have fears of falling apart or losing control.
HP:0003066	Limited knee extension	Reduced ability to extend (straighten) the knee joint.
HP:0100543	Cognitive impairment	Abnormal cognition is characterized by deficits in thinking, reasoning, or remembering.
HP:0002067	Bradykinesia	Bradykinesia literally means slow movement, and is used clinically to denote a slowness in the execution of movement (in contrast to hypokinesia, which is used to refer to slowness in the initiation of movement).
HP:0010819	Atonic seizure	Atonic seizure is a type of motor seizure characterized by a sudden loss or diminution of muscle tone without apparent preceding myoclonic or tonic event lasting about 1 to 2 seconds, involving head, trunk, jaw, or limb musculature.
HP:0100694	Tibial torsion	Twisted position of the tibia (shin bone) associated with pathological rotation of the leg.
HP:0000750	Delayed speech and language development	A degree of language development that is significantly below the norm for a child of a specified age.
HP:0003621	Juvenile onset	Onset of signs or symptoms of disease between the age of 5 and 15 years.
HP:0000729	Autistic behavior	Persistent deficits in social interaction and communication and interaction as well as a markedly restricted repertoire of activity and interest as well as repetitive patterns of behavior.
HP:0008770	Obsessive-compulsive trait	The presence of one or more obsessive-compulsive personality traits. Obsessions refer to persistent intrusive thoughts, and compulsions to intrusive behaviors, which the affected person experiences as involuntary, senseless, or repugnant.
HP:0002384	Focal impaired awareness seizure	Focal impaired awareness seizure (or focal seizure with impaired or lost awareness) is a type of focal-onset seizure characterized by some degree (which may be partial) of impairment of the person's awareness of themselves or their surroundings at any point during the seizure.
HP:0001263	Global developmental delay	A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. This term should only be used to describe children younger than five years of age.
HP:0002121	Generalized non-motor (absence) seizure	A generalized non-motor (absence) seizure is a type of a type of dialeptic seizure that is of electrographically generalized onset. It is a generalized seizure characterised by an interruption of activities, a blank stare, and usually the person will be unresponsive when spoken to. Any ictal motor phenomena are minor in comparison to these non-motor features.
HP:0001337	Tremor	An unintentional, oscillating to-and-fro muscle movement about a joint axis.
HP:0002133	Status epilepticus	Status epilepticus is a type of prolonged seizure resulting either from the failure of the mechanisms responsible for seizure termination or from the initiation of mechanisms which lead to abnormally prolonged seizures (after time point t1). It is a condition that can have long-term consequences (after time point t2), including neuronal death, neuronal injury, and alteration of neuronal networks, depending on the type and duration of seizures.
HP:0001763	Pes planus	A foot where the longitudinal arch of the foot is in contact with the ground or floor when the individual is standing; or, in a patient lying supine, a foot where the arch is in contact with the surface of a flat board pressed against the sole of the foot by the examiner with a pressure similar to that expected from weight bearing; or, the height of the arch is reduced.
HP:0001251	Ataxia	Cerebellar ataxia refers to ataxia due to dysfunction of the cerebellum. This causes a variety of elementary neurological deficits including asynergy (lack of coordination between muscles, limbs and joints), dysmetria (lack of ability to judge distances that can lead to under- or overshoot in grasping movements), and dysdiadochokinesia (inability to perform rapid movements requiring antagonizing muscle groups to be switched on and off repeatedly).
HP:0002123	Generalized myoclonic seizure	A generalized myoclonic seizure is a type of generalized motor seizure characterised by bilateral, sudden, brief (<100 ms) involuntary single or multiple contraction of muscles or muscle groups of variable topography (axial, proximal limb, distal). Myoclonus is less regularly repetitive and less sustained than is clonus.
HP:0011463	Childhood onset	Onset of disease at the age of between 1 and 5 years.
HP:0000006	Autosomal dominant inheritance	A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
HP:0002069	Bilateral tonic-clonic seizure	A bilateral tonic-clonic seizure is a seizure defined by a tonic (bilateral increased tone, lasting seconds to minutes) and then a clonic (bilateral sustained rhythmic jerking) phase.
HP:0011151	Atypical absence status epilepticus	Atypical absence status epilepticus is a type of generalized non-convulsive status epilepticus without coma that is semiologically a prolonged atypical absence seizure.
HP:0002376	Developmental regression	Loss of developmental skills, as manifested by loss of developmental milestones.
HP:0010850	EEG with spike-wave complexes	Complexes of spikes (<70 ms) and sharp waves (70-200 ms), which are sharp transient waves that have a strong association with epilepsy, in cerebral electrical activity recorded along the scalp by electroencephalography (EEG).
HP:0004684	Talipes valgus	Outward turning of the heel, resulting in clubfoot with the person walking on the inner part of the foot.
HP:0001252	Hypotonia	Hypotonia is an abnormally low muscle tone (the amount of tension or resistance to movement in a muscle). Even when relaxed, muscles have a continuous and passive partial contraction which provides some resistance to passive stretching. Hypotonia thus manifests as diminished resistance to passive stretching. Hypotonia is not the same as muscle weakness, although the two conditions can co-exist.
HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)	A febrile seizure is any type of seizure (most often a generalized tonic-clonic seizure) occurring with fever (at least 38 degrees Celsius) but in the absence of central nervous system infection, severe metabolic disturbance or other alternative precipitant in children between the ages of 3 months and 6 years.
HP:0032792	Tonic seizure	A tonic seizure is a type of motor seizure characterised by unilateral or bilateral limb stiffening or elevation, often with neck stiffening.
HP:0002311	Incoordination

KCTD13 NM_178863.5 Whole gene - Size : 21,224 bases

pLI : 0 LOEUF : 0.95 sHet : 0.171
Location : 29,916,333 - 29,937,557

Database :

DecipherGenomics PanelApp OMIM:608947 GTEx Portal Human Protein Atlas Ensembl

SFARI (Autism Database) :

Gene Score : 2

Is Not Syndromic

No EAGLE Score

Reports : 8

TAOK2 NM_016151.4 Whole gene - Size : 18,393 bases

pLI : 1 LOEUF : 0.24 sHet : 0.172 pHaplo : 0.56 pTriplo : 1
Location : 29,985,189 - 30,003,582

Database :

DecipherGenomics PanelApp OMIM:613199 GTEx Portal Human Protein Atlas Ensembl

SFARI (Autism Database) :

Gene Score : 2

Is Not Syndromic

No EAGLE Score

Reports : 7

KDM8 NM_024773.3 Whole gene - Size : 18,260 bases

pLI : 0 LOEUF : 0.83 sHet : 0.022 pHaplo : 0.62 pTriplo : 0.52
Location : 27,214,829 - 27,233,089

Database :

DecipherGenomics OMIM:611917 GTEx Portal Human Protein Atlas Ensembl

SEPTIN1 NM_001365977.2 Whole gene - Size : 17,856 bases

pLI : 0 LOEUF : 0.97
Location : 30,389,456 - 30,407,312

Database :

DecipherGenomics OMIM:612897 GTEx Portal Human Protein Atlas Ensembl

Human Phenotype Ontology Show/Hide

HP:0012207	Reduced sperm motility	An abnormal reduction in the mobility of ejaculated sperm.
HP:0003251	Male infertility
HP:0000006	Autosomal dominant inheritance	A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
HP:0012864	Abnormal sperm morphology	A structural anomaly of sperm.
HP:0000798	Oligozoospermia	Reduced count of spermatozoa in the semen, defined as a sperm count below 20 million per milliliter semen.
HP:0011462	Young adult onset	Onset of disease at the age of between 16 and 40 years.

DOC2A NM_003586.3 Whole gene - Size : 17,756 bases

pLI : 0.01 LOEUF : 0.69 sHet : 0.02 pHaplo : 0.16 pTriplo : 0.3
Location : 30,016,835 - 30,034,591

Database :

DecipherGenomics OMIM:604567 GTEx Portal Human Protein Atlas Ensembl

TRIM72 NM_001008274.4 Whole gene - Size : 17,446 bases

pLI : 0 LOEUF : 1.05 sHet : 0.005 pHaplo : 0.43 pTriplo : 0.65
Location : 31,225,412 - 31,242,858

Database :

DecipherGenomics OMIM:613288 GTEx Portal Human Protein Atlas Ensembl

KAT8 NM_032188.3 Whole gene - Size : 16,904 bases

pLI : 0.38 LOEUF : 0.44 sHet : 0.019 pHaplo : 0.25 pTriplo : 0.99
Location : 31,125,810 - 31,142,714

Disease : Non-specific syndromic intellectual disability

Source : Orphanet

Database :

DecipherGenomics PanelApp OMIM:609912 Orphanet:528084 HGNC:17933 PMID:31794431 GTEx Portal Human Protein Atlas Ensembl

Human Phenotype Ontology Show/Hide

HP:0001250	Seizure	A seizure is an intermittent abnormality of nervous system physiology characterised by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain.
HP:0000369	Low-set ears	Upper insertion of the ear to the scalp below an imaginary horizontal line drawn between the inner canthi of the eye and extending posteriorly to the ear.
HP:0004209	Clinodactyly of the 5th finger	Clinodactyly refers to a bending or curvature of the fifth finger in the radial direction (i.e., towards the 4th finger).
HP:0008872	Feeding difficulties in infancy	Impaired feeding performance of an infant as manifested by difficulties such as weak and ineffective sucking, brief bursts of sucking, and falling asleep during sucking. There may be difficulties with chewing or maintaining attention.
HP:0002119	Ventriculomegaly	An increase in size of the ventricular system of the brain.
HP:0002079	Hypoplasia of the corpus callosum	Underdevelopment of the corpus callosum.
HP:0001631	Atrial septal defect	Atrial septal defect (ASD) is a congenital abnormality of the interatrial septum that enables blood flow between the left and right atria via the interatrial septum.
HP:0000750	Delayed speech and language development	A degree of language development that is significantly below the norm for a child of a specified age.
HP:0000729	Autistic behavior	Persistent deficits in social interaction and communication and interaction as well as a markedly restricted repertoire of activity and interest as well as repetitive patterns of behavior.
HP:0001263	Global developmental delay	A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. This term should only be used to describe children younger than five years of age.
HP:0000426	Prominent nasal bridge	Anterior positioning of the nasal root in comparison to the usual positioning for age.
HP:0000286	Epicanthus	A fold of skin starting above the medial aspect of the upper eyelid and arching downward to cover, pass in front of and lateral to the medial canthus.
HP:0000540	Hypermetropia	An abnormality of refraction characterized by the ability to see objects in the distance clearly, while objects nearby appear blurry.
HP:0002194	Delayed gross motor development	A type of motor delay characterized by a delay in acquiring the ability to control the large muscles of the body for walking, running, sitting, and crawling.
HP:0001643	Patent ductus arteriosus	In utero, the ductus arteriosus (DA) serves to divert ventricular output away from the lungs and toward the placenta by connecting the main pulmonary artery to the descending aorta. A patent ductus arteriosus (PDA) in the first 3 days of life is a physiologic shunt in healthy term and preterm newborn infants, and normally is substantially closed within about 24 hours after bith and completely closed after about three weeks. Failure of physiologcal closure is referred to a persistent or patent ductus arteriosus (PDA). Depending on the degree of left-to-right shunting, PDA can have clinical consequences.
HP:0005280	Depressed nasal bridge	Posterior positioning of the nasal root in relation to the overall facial profile for age.
HP:0000601	Hypotelorism	Interpupillary distance less than 2 SD below the mean (alternatively, the appearance of an decreased interpupillary distance or closely spaced eyes).
HP:0007018	Attention deficit hyperactivity disorder	Attention deficit hyperactivity disorder (ADHD) manifests at age 2-3 years or by first grade at the latest. The main symptoms are distractibility, impulsivity, hyperactivity, and often trouble organizing tasks and projects, difficulty going to sleep, and social problems from being aggressive, loud, or impatient.
HP:0001629	Ventricular septal defect	A hole between the two bottom chambers (ventricles) of the heart. The defect is centered around the most superior aspect of the ventricular septum.
HP:0000006	Autosomal dominant inheritance	A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
HP:0000506	Telecanthus	Distance between the inner canthi more than two standard deviations above the mean (objective); or, apparently increased distance between the inner canthi.
HP:0000582	Upslanted palpebral fissure	The palpebral fissure inclination is more than two standard deviations above the mean for age (objective); or, the inclination of the palpebral fissure is greater than typical for age.
HP:0000565	Esotropia	A form of strabismus with one or both eyes turned inward ('crossed') to a relatively severe degree, usually defined as 10 diopters or more.
HP:0007165	Periventricular heterotopia	A form of gray matter heterotopia were the mislocalized gray matter is typically located periventricularly, also sometimes called subependymal heterotopia. Periventricular means beside the ventricles. This is by far the most common location for heterotopia. Subependymal heterotopia present in a wide array of variations. There can be a small single node or a large number of nodes, can exist on either or both sides of the brain at any point along the higher ventricle margins, can be small or large, single or multiple, and can form a small node or a large wavy or curved mass.
HP:0012471	Thick vermilion border	Increased width of the skin of vermilion border region of upper lip.
HP:0002714	Downturned corners of mouth	A morphological abnormality of the mouth in which the angle of the mouth is downturned. The oral commissures are positioned inferior to the midline labial fissure.
HP:0010862	Delayed fine motor development	A type of motor delay characterized by a delay in acquiring the ability to control the fingers and hands.
HP:0001845	Overlapping toe	Describes a foot digit resting on the dorsal surface of an adjacent digit when the foot is at rest. Initially clawing may be dynamic and only noticeable on walking. Over time the plantar plate tears, subluxation occurs at the metatarsophalangeal joint (MTPJ), and the deformity becomes permanent.

NFATC2IP NM_032815.4 Whole gene - Size : 16,285 bases

pLI : 0 LOEUF : 1.02 sHet : 0.015 pHaplo : 0.17 pTriplo : 0.66
Location : 28,962,128 - 28,978,413

Database :

DecipherGenomics OMIM:614525 GTEx Portal Human Protein Atlas Ensembl

KIF22 NM_007317.3 Whole gene - Size : 14,658 bases

pLI : 0 LOEUF : 0.85 sHet : 0.019 pHaplo : 0.15 pTriplo : 0.65
Location : 29,802,048 - 29,816,706

Disease : Spondyloepimetaphyseal dysplasia with multiple dislocations

Source : Orphanet

Database :

DecipherGenomics PanelApp OMIM:603213 Orphanet:93360 HGNC:6391 PMID:22152677 GTEx Portal Human Protein Atlas Ensembl

Human Phenotype Ontology Show/Hide

HP:0003083	Dislocated radial head	A dislocation of the head of the radius from its socket in the elbow joint.
HP:0010582	Irregular epiphyses	An alteration of the normally smooth contour of the epiphysis leading to an irregular appearance.
HP:0006016	Delayed phalangeal epiphyseal ossification	Delay in the process of formation and maturation of the epiphysis of one or more phalanx.
HP:0001250	Seizure	A seizure is an intermittent abnormality of nervous system physiology characterised by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain.
HP:0008819	Narrow femoral neck	An abnormally reduced diameter of the femoral neck (which is the process of bone, connecting the femoral head with the femoral shaft).
HP:0003025	Metaphyseal irregularity	Irregularity of the normally smooth surface of the metaphyses.
HP:0008457	Caudal interpedicular narrowing	Narrowing (becoming gradually narrower) of the distance between vertebral pedicles that gets progressively more severe towards to caudal (lower) end of the vertebral column. Note that normally, the interpedicular distances get progressively wider as one proceeds down the spine.
HP:0001058	Poor wound healing	A reduced ability to heal cutaneous wounds.
HP:0002987	Elbow flexion contracture	An elbow contracture that limits the ability of the elbow joint to be extended (straightened), meaning that the elbow is fixed in an flexed (bent) position.
HP:0011800	Midface retrusion	Posterior positions and/or vertical shortening of the infraorbital and perialar regions, or increased concavity of the face and/or reduced nasolabial angle.
HP:0002651	Spondyloepimetaphyseal dysplasia
HP:0031367	Metaphyseal striations	Longitudinal densities on radiographs located in a metaphysis (the narrow region of a long bone between the epiphysis and the diaphysis).
HP:0009815	Aplasia/hypoplasia of the extremities	Absence (due to failure to form) or underdevelopment of the extremities.
HP:0002857	Genu valgum	The legs angle inward, such that the knees are close together and the ankles far apart.
HP:0012296	Slender distal phalanx of finger	Reduced diameter of the distal phalanx of finger.
HP:0002663	Delayed epiphyseal ossification
HP:0001238	Slender finger	Fingers that are disproportionately narrow (reduced girth) for the hand/foot size or build of the individual.
HP:0002808	Kyphosis	Exaggerated anterior convexity of the thoracic vertebral column.
HP:0001374	Congenital hip dislocation
HP:0005619	Thoracolumbar kyphosis	Hyperconvexity of the thoracolumbar spine producing a rounded or humped appearance.
HP:0004322	Short stature	A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to "short stature" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms).
HP:0010674	Abnormal curvature of the vertebral column	The presence of an abnormal curvature of the vertebral column.
HP:0000006	Autosomal dominant inheritance	A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
HP:0002827	Hip dislocation	Displacement of the femur from its normal location in the hip joint.
HP:0002650	Scoliosis	The presence of an abnormal lateral curvature of the spine.
HP:0006454	Delayed patellar ossification	Formation of bone in the patella later than normal.
HP:0003301	Irregular vertebral endplates	An irregular surface of the vertebral end plates, which are normally relatively smooth.
HP:0003015	Flared metaphysis	The presence of a splayed (i.e.,flared) metaphyseal segment of one or more long bones.
HP:0001252	Hypotonia	Hypotonia is an abnormally low muscle tone (the amount of tension or resistance to movement in a muscle). Even when relaxed, muscles have a continuous and passive partial contraction which provides some resistance to passive stretching. Hypotonia thus manifests as diminished resistance to passive stretching. Hypotonia is not the same as muscle weakness, although the two conditions can co-exist.
HP:0002652	Skeletal dysplasia	A general term describing features characterized by abnormal development of bones and connective tissues.
HP:0005092	Streaky metaphyseal sclerosis	The presence of streaks (bands) of abnormally increased density of metaphyseal bone.
HP:0100168	Fragmented epiphyses	Fragmented appearance of the epiphyses.
HP:0005008	Large joint dislocations
HP:0003370	Flat capital femoral epiphysis	An abnormal flattening of the proximal epiphysis of the femur.
HP:0006236	Slender metacarpals	Decreased width of the metacarpal bones (that is, reduced diameter).
HP:0001602	Laryngeal stenosis	Stricture or narrowing of the larynx that may be associated with symptoms of respiratory difficulty depending on the degree of laryngeal narrowing.
HP:0001498	Carpal bone hypoplasia	Underdevelopment of one or more carpal bones.
HP:0001290	Generalized hypotonia	Generalized muscular hypotonia (abnormally low muscle tone).
HP:0012297	Slender proximal phalanx of finger	Reduced diameter of the proximal phalanx of finger.
HP:0003048	Radial head subluxation	Partial dislocation of the head of the radius.
HP:0005121	Posterior scalloping of vertebral bodies	An excessive concavity of the posterior surface of one or more vertebral bodies.
HP:0002970	Genu varum	A positional abnormality marked by outward bowing of the legs in which the knees stay wide apart when a person stands with the feet and ankles together.
HP:0003071	Flattened epiphysis	Abnormal flatness (decreased height) of epiphyses.
HP:0012299	Long distal phalanx of finger	Increased length of the distal phalanx of finger.
HP:0003088	Premature osteoarthritis
HP:0030043	Hip subluxation	A partial dislocation of the hip joint, whereby the head of the femur is partially displaced from the socket.
HP:0004875	Neonatal inspiratory stridor
HP:0002656	Epiphyseal dysplasia
HP:0006127	Long proximal phalanx of finger	Increased length of the proximal phalanx of finger.
HP:0009836	Broad distal phalanx of finger	Abnormally wide (broad) distal phalanx of finger.
HP:0010301	Spinal dysraphism	A heterogeneous group of congenital spinal anomalies that result from defective closure of the neural tube early in fetal life.
HP:0002761	Generalized joint laxity	Joint hypermobility (ability of a joint to move beyond its normal range of motion) affecting many or all joints of the body.
HP:0000977	Soft skin	Subjective impression of increased softness upon palpation of the skin.
HP:0001518	Small for gestational age	Smaller than normal size according to sex and gestational age related norms, defined as a weight below the 10th percentile for the gestational age.
HP:0003090	Hypoplasia of the capital femoral epiphysis	Underdevelopment of the proximal epiphysis of the femur.
HP:0012368	Flat face	Absence of concavity or convexity of the face when viewed in profile.
HP:0008857	Neonatal short-trunk short stature	A type of disproportionate short stature characterized by a short trunk but a average-sized limbs with congenital onset recognizable at birth.
HP:0001388	Joint laxity	Lack of stability of a joint.
HP:0006014	Abnormally shaped carpal bones
HP:0000486	Strabismus	A misalignment of the eyes so that the visual axes deviate from bifoveal fixation. The classification of strabismus may be based on a number of features including the relative position of the eyes, whether the deviation is latent or manifest, intermittent or constant, concomitant or otherwise and according to the age of onset and the relevance of any associated refractive error.
HP:0006536	Airway obstruction	Obstruction of conducting airways of the lung.
HP:0001832	Abnormal metatarsal morphology	Abnormalities of the metatarsal bones (i.e. of five tubular bones located between the tarsal bones of the hind- and mid-foot and the phalanges of the toes).
HP:0010585	Small epiphyses	Reduction in the size or volume of epiphyses.
HP:0008755	Laryngotracheomalacia
HP:0002751	Kyphoscoliosis	An abnormal curvature of the spine in both a coronal (lateral) and sagittal (back-to-front) plane.
HP:0040064	Abnormality of limbs
HP:0000926	Platyspondyly	A flattened vertebral body shape with reduced distance between the vertebral endplates.
HP:0000272	Malar flattening	Underdevelopment of the malar prominence of the jugal bone (zygomatic bone in mammals), appreciated in profile, frontal view, and/or by palpation.
HP:0012095	Multiple joint dislocation	Dislocation of many joints.

RNF40 NM_014771.4 Whole gene - Size : 14,562 bases

pLI : 1 LOEUF : 0.24 sHet : 0.004 pHaplo : 0.53 pTriplo : 0.99
Location : 30,773,066 - 30,787,628

Database :

DecipherGenomics OMIM:607700 GTEx Portal Human Protein Atlas Ensembl

ATXN2L NM_007245.4 Whole gene - Size : 14,238 bases

pLI : 1 LOEUF : 0.17 sHet : 0.387 pHaplo : 0.96 pTriplo : 0.98
Location : 28,834,320 - 28,848,558

Database :

DecipherGenomics PanelApp OMIM:607931 GTEx Portal Human Protein Atlas Ensembl

ZNF668 NM_024706.5 Whole gene - Size : 13,397 bases

pLI : 0.13 LOEUF : 0.57 sHet : 0.022 pHaplo : 0.25 pTriplo : 0.78
Location : 31,072,164 - 31,085,561

Database :

DecipherGenomics PanelApp OMIM:617103 GTEx Portal Human Protein Atlas Ensembl

Human Phenotype Ontology Show/Hide

HP:0003593	Infantile onset	Onset of signs or symptoms of disease between 28 days to one year of life.
HP:0011968	Feeding difficulties	Impaired ability to eat related to problems gathering food and getting ready to suck, chew, or swallow it.
HP:0430028	Hyperplasia of the maxilla	Abnormally increased dimension of the maxilla, especially relative to the mandible, resulting in a malocclusion or malalignment between the upper and lower teeth or in anterior positioning of the nasal base, increased convexity of the face, increased nasolabial angle, or increased width (transverse dimension of the maxilla.
HP:0001250	Seizure	A seizure is an intermittent abnormality of nervous system physiology characterised by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain.
HP:0002061	Lower limb spasticity	Spasticity (velocity-dependent increase in tonic stretch reflexes with increased muscle tone and hyperexcitable tendon reflexes) in the muscles of the lower limbs, hips, and pelvis
HP:0000938	Osteopenia	Osteopenia is a term to define bone density that is not normal but also not as low as osteoporosis. By definition from the World Health Organization osteopenia is defined by bone densitometry as a T score -1 to -2.5.
HP:0001822	Hallux valgus	Lateral deviation of the great toe (i.e., in the direction of the little toe).
HP:0030084	Clinodactyly	An angulation of a digit at an interphalangeal joint in the plane of the palm (finger) or sole (toe).
HP:0000347	Micrognathia	Developmental hypoplasia of the mandible.
HP:0002783	Recurrent lower respiratory tract infections	An increased susceptibility to lower respiratory tract infections as manifested by a history of recurrent lower respiratory tract infections.
HP:0200134	Epileptic encephalopathy	A condition in which epileptiform abnormalities are believed to contribute to the progressive disturbance in cerebral function. Epileptic encephalaopathy is characterized by (1) electrographic EEG paroxysmal activity that is often aggressive, (2) seizures that are usually multiform and intractable, (3) cognitive, behavioral and neurological deficits that may be relentless, and (4) sometimes early death.
HP:0000252	Microcephaly	Head circumference below 2 standard deviations below the mean for age and gender.
HP:0001263	Global developmental delay	A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. This term should only be used to describe children younger than five years of age.
HP:0000007	Autosomal recessive inheritance	A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
HP:0001508	Failure to thrive	Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm.
HP:0001684	Secundum atrial septal defect	A kind of atrial septum defect arising from an enlarged foramen ovale, inadequate growth of the septum secundum, or excessive absorption of the septum primum.
HP:0001847	Long hallux	Increased length of the big toe.
HP:0000490	Deeply set eye	An eye that is more deeply recessed into the plane of the face than is typical.
HP:0000567	Chorioretinal coloboma	Absence of a region of the retina, retinal pigment epithelium, and choroid.
HP:0011304	Broad thumb	Increased thumb width without increased dorso-ventral dimension.
HP:0001518	Small for gestational age	Smaller than normal size according to sex and gestational age related norms, defined as a weight below the 10th percentile for the gestational age.
HP:0000384	Preauricular skin tag	A rudimentary tag of skin often containing ear tissue including a core of cartilage and located just anterior to the auricle (outer part of the ear).
HP:0001249	Intellectual disability	Intellectual disability, previously referred to as mental retardation, is characterized by subnormal intellectual functioning that occurs during the developmental period. It is defined by an IQ score below 70.
HP:0000218	High palate	Height of the palate more than 2 SD above the mean (objective) or palatal height at the level of the first permanent molar more than twice the height of the teeth (subjective).
HP:0000819	Diabetes mellitus	A group of abnormalities characterized by hyperglycemia and glucose intolerance.
HP:0000400	Macrotia	Median longitudinal ear length greater than two standard deviations above the mean and median ear width greater than two standard deviations above the mean (objective); or, apparent increase in length and width of the pinna (subjective).
HP:0001252	Hypotonia	Hypotonia is an abnormally low muscle tone (the amount of tension or resistance to movement in a muscle). Even when relaxed, muscles have a continuous and passive partial contraction which provides some resistance to passive stretching. Hypotonia thus manifests as diminished resistance to passive stretching. Hypotonia is not the same as muscle weakness, although the two conditions can co-exist.
HP:0000768	Pectus carinatum	A deformity of the chest caused by overgrowth of the ribs and characterized by protrusion of the sternum.
HP:0012444	Brain atrophy	Partial or complete wasting (loss) of brain tissue that was once present.
HP:0000448	Prominent nose	Distance between subnasale and pronasale more than two standard deviations above the mean, or alternatively, an apparently increased anterior protrusion of the nasal tip.

TBC1D10B NM_015527.4 Whole gene - Size : 13,392 bases

pLI : 1 LOEUF : 0.21 sHet : 0.093 pHaplo : 0.53 pTriplo : 0.98
Location : 30,368,423 - 30,381,815

Database :

DecipherGenomics OMIM:613620 GTEx Portal Human Protein Atlas Ensembl

AQP8 NM_001169.3 Whole gene - Size : 13,201 bases

pLI : 0 LOEUF : 1.12 sHet : 0.02 pHaplo : 0.32 pTriplo : 0.53
Location : 25,227,052 - 25,240,253

Database :

DecipherGenomics OMIM:603750 GTEx Portal Human Protein Atlas Ensembl

PHKG2 NM_000294.3 Whole gene - Size : 12,883 bases

pLI : 0 LOEUF : 0.66 sHet : 0.028 pHaplo : 0.1 pTriplo : 0.9
Location : 30,759,614 - 30,772,497

Disease : Glycogen storage disease due to liver phosphorylase kinase deficiency

Source : Orphanet

Database :

DecipherGenomics PanelApp OMIM:172471 Orphanet:264580 HGNC:8931 GTEx Portal Human Protein Atlas Ensembl

Human Phenotype Ontology Show/Hide

HP:0001943	Hypoglycemia	A decreased concentration of glucose in the blood.
HP:0001946	Ketosis	Presence of elevated levels of ketone bodies in the body.
HP:0002360	Sleep abnormality	An abnormal pattern in the quality, quantity, or characteristics of sleep.
HP:0002014	Diarrhea	Abnormally increased frequency (usually defined as three or more) loose or watery bowel movements a day.
HP:0001408	Bile duct proliferation	Proliferative changes of the bile ducts.
HP:0002910	Elevated hepatic transaminase	Elevations of the levels of SGOT and SGPT in the serum. SGOT (serum glutamic oxaloacetic transaminase) and SGPT (serum glutamic pyruvic transaminase) are transaminases primarily found in the liver and heart and are released into the bloodstream as the result of liver or heart damage. SGOT and SGPT are used clinically mainly as markers of liver damage.
HP:0001397	Hepatic steatosis	Steatosis is a term used to denote lipid accumulation within hepatocytes.
HP:0003621	Juvenile onset	Onset of signs or symptoms of disease between the age of 5 and 15 years.
HP:0000007	Autosomal recessive inheritance	A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
HP:0001508	Failure to thrive	Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm.
HP:0002913	Myoglobinuria	Presence of myoglobin in the urine.
HP:0002194	Delayed gross motor development	A type of motor delay characterized by a delay in acquiring the ability to control the large muscles of the body for walking, running, sitting, and crawling.
HP:0002018	Nausea	A sensation of unease in the stomach together with an urge to vomit.
HP:0001395	Hepatic fibrosis	The presence of excessive fibrous connective tissue in the liver. Fibrosis is a reparative or reactive process.
HP:0012379	Abnormal circulating enzyme concentration or activity	Concentration or activity of an enzyme is above or below the limits of normal in the blood circulation.
HP:0006580	Portal fibrosis	Fibroblast proliferation and fiber expansion from the portal areas to the lobule.
HP:0000823	Delayed puberty	Passing the age when puberty normally occurs with no physical or hormonal signs of the onset of puberty.
HP:0003236	Elevated circulating creatine kinase concentration	An elevation of the level of the enzyme creatine kinase (also known as creatine phosphokinase (CK; EC 2.7.3.2) in the blood. CK levels can be elevated in a number of clinical disorders such as myocardial infarction, rhabdomyolysis, and muscular dystrophy.
HP:0004322	Short stature	A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to "short stature" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms).
HP:0003124	Hypercholesterolemia	An increased concentration of cholesterol in the blood.
HP:0002151	Increased serum lactate	Abnormally increased level of blood lactate (2-hydroxypropanoic acid). Lactate is produced from pyruvate by lactate dehydrogenase during normal metabolism. The terms lactate and lactic acid are often used interchangeably but lactate (the component measured in blood) is strictly a weak base whereas lactic acid is the corresponding acid. Lactic acidosis is often used clinically to describe elevated lactate but should be reserved for cases where there is a corresponding acidosis (pH below 7.35).
HP:0004324	Increased body weight	Abnormally increased body weight.
HP:0003162	Fasting hypoglycemia
HP:0000876	Oligomenorrhea	Infrequent menses (less than 6 per year or more than 35 days between cycles).
HP:0001744	Splenomegaly	Abnormal increased size of the spleen.
HP:0001249	Intellectual disability	Intellectual disability, previously referred to as mental retardation, is characterized by subnormal intellectual functioning that occurs during the developmental period. It is defined by an IQ score below 70.
HP:0003128	Lactic acidosis	An abnormal buildup of lactic acid in the body, leading to acidification of the blood and other bodily fluids.
HP:0001947	Renal tubular acidosis	Acidosis owing to malfunction of the kidney tubules with accumulation of metabolic acids and hyperchloremia, potentially leading to complications including hypokalemia, hypercalcinuria, nephrolithiasis and nephrocalcinosis.
HP:0001252	Hypotonia	Hypotonia is an abnormally low muscle tone (the amount of tension or resistance to movement in a muscle). Even when relaxed, muscles have a continuous and passive partial contraction which provides some resistance to passive stretching. Hypotonia thus manifests as diminished resistance to passive stretching. Hypotonia is not the same as muscle weakness, although the two conditions can co-exist.
HP:0006568	Increased hepatic glycogen content	An increase in the amount of glycogen stored in hepatocytes compared to normal.
HP:0003593	Infantile onset	Onset of signs or symptoms of disease between 28 days to one year of life.
HP:0030272	Abnormal erythrocyte enzyme level	An altered level of any enzyme to act as catalysts within erythrocytes. This term includes changes due to altered activity of an enzyme.
HP:0003546	Exercise intolerance	A functional motor deficit where individuals whose responses to the challenges of exercise fail to achieve levels considered normal for their age and gender.
HP:0001270	Motor delay	A type of Developmental delay characterized by a delay in acquiring motor skills.
HP:0002013	Vomiting	Forceful ejection of the contents of the stomach through the mouth by means of a series of involuntary spasmic contractions.
HP:0002040	Esophageal varix	Extreme dilation of the submucusoal veins in the lower portion of the esophagus.
HP:0000147	Polycystic ovaries
HP:0012028	Hepatocellular adenoma	A benign tumor of the liver of presumably epithelial origin.
HP:0012378	Fatigue	A subjective feeling of tiredness characterized by a lack of energy and motivation.
HP:0410175	Hyperketonemia	An increase in the level of ketone bodies (acetoacetic acid, beta-hydroxybutyric acid, and acetone) in the blood.
HP:0000750	Delayed speech and language development	A degree of language development that is significantly below the norm for a child of a specified age.
HP:0001903	Anemia	A reduction in erythrocytes volume or hemoglobin concentration.
HP:0002155	Hypertriglyceridemia	An abnormal increase in the level of triglycerides in the blood.
HP:0030232	Increased sarcoplasmic glycogen	Elevated glycogen content in the sarcoplasm (cytoplasm) of muscle fibers.
HP:0001263	Global developmental delay	A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. This term should only be used to describe children younger than five years of age.
HP:0001510	Growth delay	A deficiency or slowing down of growth pre- and postnatally.
HP:0000939	Osteoporosis	Osteoporosis is a systemic skeletal disease characterized by low bone density and microarchitectural deterioration of bone tissue with a consequent increase in bone fragility. According to the WHO criteria, osteoporosis is defined as a BMD that lies 2.5 standard deviations or more below the average value for young healthy adults (a T-score below -2.5 SD).
HP:0003394	Muscle spasm	Sudden and involuntary contractions of one or more muscles.
HP:0001394	Cirrhosis	A chronic disorder of the liver in which liver tissue becomes scarred and is partially replaced by regenerative nodules and fibrotic tissue resulting in loss of liver function.
HP:0002240	Hepatomegaly	Abnormally increased size of the liver.
HP:0008897	Postnatal growth retardation	Slow or limited growth after birth.
HP:0100607	Dysmenorrhea	Pain during menstruation that interferes with daily activities.
HP:0001638	Cardiomyopathy	A myocardial disorder in which the heart muscle is structurally and functionally abnormal, in the absence of coronary artery disease, hypertension, valvular disease and congenital heart disease sufficient to cause the observed myocardial abnormality.
HP:0003323	Progressive muscle weakness
HP:0011463	Childhood onset	Onset of disease at the age of between 1 and 5 years.
HP:0000858	Irregular menstruation	Abnormally high variation in the amount of time between periods.
HP:0003326	Myalgia	Pain in muscle.
HP:0001396	Cholestasis	Impairment of bile flow due to obstruction in bile ducts.
HP:0003202	Skeletal muscle atrophy	The presence of skeletal muscular atrophy (which is also known as amyotrophy).
HP:0002719	Recurrent infections	Increased susceptibility to infections.

IL27 NM_145659.3 Whole gene - Size : 12,689 bases

pLI : 0.78 LOEUF : 0.51 sHet : 0.139 pHaplo : 0.4 pTriplo : 0.34
Location : 28,510,683 - 28,523,372

Database :

DecipherGenomics OMIM:608273 GTEx Portal Human Protein Atlas Ensembl

FBRS NM_001105079.3 Whole gene - Size : 12,379 bases

pLI : 1 LOEUF : 0.16 pHaplo : 0.53 pTriplo : 0.9
Location : 30,669,752 - 30,682,131

Database :

DecipherGenomics PanelApp OMIM:608601 GTEx Portal Human Protein Atlas Ensembl

FUS NM_004960.4 Whole gene - Size : 11,467 bases

pLI : 1 LOEUF : 0.24 sHet : 0.314 pHaplo : 0.9 pTriplo : 0.94
Location : 31,191,459 - 31,202,926

Disease : Myxoid/round cell liposarcoma

Source : Orphanet

Database :

DecipherGenomics PanelApp OMIM:137070 Orphanet:99967 HGNC:4010 GTEx Portal Human Protein Atlas Ensembl

Human Phenotype Ontology Show/Hide

HP:0007373	Motor neuron atrophy	Wasting involving the motor neuron.
HP:0002544	Retrocollis	A form of torticollis in which the head is drawn back, either due to a permanent contractures of neck extensor muscles, or to a spasmodic contracture.
HP:0002169	Clonus	A series of rhythmic and involuntary muscle contractions (at a frequency of about 5 to 7 Hz) that occur in response to an abruptly applied and sustained stretch.
HP:0001482	Subcutaneous nodule	Slightly elevated lesions on or in the skin with a diameter of over 5 mm.
HP:0031936	Delayed ability to walk	A failure to achieve the ability to walk at an appropriate developmental stage. Most children learn to walk in a series of stages, and learn to walk short distances independently between 12 and 15 months.
HP:0002273	Tetraparesis	Weakness of all four limbs.
HP:0003722	Neck flexor weakness	Weakness of the muscles involved in neck flexion (sternocleidomastoid, longus capitus, longus colli, and scalenus anterior).
HP:0000739	Anxiety	Intense feelings of nervousness, tension, or panic often arise in response to interpersonal stresses. There is worry about the negative effects of past unpleasant experiences and future negative possibilities. Individuals may feel fearful, apprehensive, or threatened by uncertainty, and they may also have fears of falling apart or losing control.
HP:0002015	Dysphagia	Difficulty in swallowing.
HP:0000712	Emotional lability	Unstable emotional experiences and frequent mood changes; emotions that are easily aroused, intense, and/or disproportionate to events and circumstances.
HP:0001288	Gait disturbance	The term gait disturbance can refer to any disruption of the ability to walk. In general, this can refer to neurological diseases but also fractures or other sources of pain that is triggered upon walking. However, in the current context gait disturbance refers to difficulty walking on the basis of a neurological or muscular disease.
HP:0002283	Global brain atrophy	Unlocalized atrophy of the brain with decreased total brain matter volume and increased ventricular size.
HP:0000508	Ptosis	The upper eyelid margin is positioned 3 mm or more lower than usual and covers the superior portion of the iris (objective); or, the upper lid margin obscures at least part of the pupil (subjective).
HP:0000252	Microcephaly	Head circumference below 2 standard deviations below the mean for age and gender.
HP:0030195	Fatigable weakness of swallowing muscles	A type of weakness of the muscles involved in swallowing that occurs after a muscle group is used and lessens if the muscle group has some rest. That is, there is diminution of strength with repetitive muscle actions.
HP:0002017	Nausea and vomiting	Nausea is a commonly encountered symptom that has been defined as an unpleasant painless subjective feeling that one will imminently vomit. Vomiting has been defined as the forceful expulsion of the contents of the stomach, duodenum, or jejunum through the oral cavity. While nausea and vomiting are often thought to exist on a temporal continuum, this is not always the case. There are situations when severe nausea may be present without emesis and less frequently, when emesis may be present without preceding nausea.
HP:0003700	Generalized amyotrophy	Generalized (diffuse, unlocalized) amyotrophy (muscle atrophy) affecting multiple muscles.
HP:0002878	Respiratory failure	A severe form of respiratory insufficiency characterized by inadequate gas exchange such that the levels of oxygen or carbon dioxide cannot be maintained within normal limits.
HP:0003487	Babinski sign	Upturning of the big toe (and sometimes fanning of the other toes) in response to stimulation of the sole of the foot. If the Babinski sign is present it can indicate damage to the corticospinal tract.
HP:0001317	Abnormal cerebellum morphology	Any structural abnormality of the cerebellum.
HP:0012048	Oromandibular dystonia	A kind of focal dystonia characterized by forceful contractions of the face, jaw, and/or tongue causing difficulty in opening and closing the mouth and often affecting chewing and speech.
HP:0031960	Arm dystonia	A type of dystonia (abnormally increased muscular tone causing fixed abnormal postures) that affects muscles of the arms.
HP:0000006	Autosomal dominant inheritance	A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
HP:0002027	Abdominal pain	An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) and perceived to originate in the abdomen.
HP:0007190	Neuronal loss in the cerebral cortex
HP:0007354	Amyotrophic lateral sclerosis
HP:0002179	Opisthotonus
HP:0005750	Lower-limb joint contracture	A limitation in the passive range of motion of a joint of the lower limb resulting from loss of elasticity in the periarticular tissues owing to structural changes of non-bony tissues, such as muscles, tendons, ligaments, joint capsules or skin.
HP:0000217	Xerostomia	Dryness of the mouth due to salivary gland dysfunction.
HP:0006986	Upper limb spasticity
HP:0002071	Abnormality of extrapyramidal motor function	A neurological condition related to lesions of the basal ganglia leading to typical abnormalities including akinesia (inability to initiate changes in activity and perform volitional movements rapidly and easily), muscular rigidity (continuous contraction of muscles with constant resistance to passive movement), chorea (widespread arrhythmic movements of a forcible, rapid, jerky, and restless nature), athetosis (inability to sustain the muscles of the fingers, toes, or other group of muscles in a fixed position), and akathisia (inability to remain motionless).
HP:0002171	Gliosis	Gliosis is the focal proliferation of glial cells in the central nervous system.
HP:0002314	Degeneration of the lateral corticospinal tracts	Deterioration of the tissues of the lateral corticospinal tracts.
HP:0001260	Dysarthria	Dysarthric speech is a general description referring to a neurological speech disorder characterized by poor articulation. Depending on the involved neurological structures, dysarthria may be further classified as spastic, flaccid, ataxic, hyperkinetic and hypokinetic, or mixed.
HP:0100543	Cognitive impairment	Abnormal cognition is characterized by deficits in thinking, reasoning, or remembering.
HP:0100360	Upper-limb joint contracture	A limitation in the passive range of motion of a joint of the upper limb resulting from loss of elasticity in the periarticular tissues owing to structural changes of non-bony tissues, such as muscles, tendons, ligaments, joint capsules or skin.
HP:0030051	Tip-toe gait	An abnormal gait pattern characterized by the failure of the heel to contact the floor at the onset of stance during gait.
HP:0002145	Frontotemporal dementia	A dementia associated with degeneration of the frontotemporal lobe and clinically associated with personality and behavioral changes such as disinhibition, apathy, and lack of insight. The hallmark feature of frontotemporal dementia is the presentation with focal syndromes such as progressive language dysfunction, or aphasia, or behavioral changes characteristic of frontal lobe disorders.
HP:0001257	Spasticity	A motor disorder characterized by a velocity-dependent increase in tonic stretch reflexes with increased muscle tone, exaggerated (hyperexcitable) tendon reflexes.
HP:0003394	Muscle spasm	Sudden and involuntary contractions of one or more muscles.
HP:0001265	Hyporeflexia	Reduction of neurologic reflexes such as the knee-jerk reaction.
HP:0001324	Muscle weakness	Reduced strength of muscles.
HP:0008322	Abnormal mitochondrial morphology	Any structural anomaly of the mitochondria.
HP:0002385	Paraparesis	Weakness or partial paralysis in the lower limbs.
HP:0003470	Paralysis	Paralysis of voluntary muscles means loss of contraction due to interruption of one or more motor pathways from the brain to the muscle fibers. Although the word paralysis is often used interchangeably to mean either complete or partial loss of muscle strength, it is preferable to use paralysis or plegia for complete or severe loss of muscle strength, and paresis for partial or slight loss. Motor paralysis results from deficits of the upper motor neurons (corticospinal, corticobulbar, or subcorticospinal). Motor paralysis is often accompanied by an impairment in the facility of movement.
HP:0100295	Muscle fiber atrophy
HP:0030223	Perseverative thought	Manifestations of perseverative thoughts are behaviors that do not meet the demands of the situation, are not the product of deliberation, and may unfold despite counter intention.
HP:0002127	Abnormal upper motor neuron morphology	Any structural anomaly that affects the upper motor neuron.
HP:0003202	Skeletal muscle atrophy	The presence of skeletal muscular atrophy (which is also known as amyotrophy).
HP:0004326	Cachexia	Severe weight loss, wasting of muscle, loss of appetite, and general debility related to a chronic disease.
HP:0002073	Progressive cerebellar ataxia
HP:0002795	Abnormal respiratory system physiology
HP:0001276	Hypertonia	A condition in which there is increased muscle tone so that arms or legs, for example, are stiff and difficult to move.
HP:0000605	Supranuclear gaze palsy	A supranuclear gaze palsy is an inability to look in a particular direction as a result of cerebral impairment. There is a loss of the voluntary aspect of eye movements, but, as the brainstem is still intact, all the reflex conjugate eye movements are normal.
HP:0030196	Fatigable weakness of respiratory muscles	A type of weakness of the muscles involved in breathing (respiration) that occurs after a muscle group is used and lessens if the muscle group has some rest. That is, there is diminution of strength with repetitive muscle actions.
HP:0002599	Head titubation	A head tremor of moderate speed (3 to 4 Hz) in the anterior-posterior direction.
HP:0003429	CNS hypomyelination	Reduced amount of myelin in the central nervous system resulting from defective myelinogenesis.
HP:0002061	Lower limb spasticity	Spasticity (velocity-dependent increase in tonic stretch reflexes with increased muscle tone and hyperexcitable tendon reflexes) in the muscles of the lower limbs, hips, and pelvis
HP:0002442	Dyscalculia	A specific learning disability involving mathematics and arithmetic.
HP:0000708	Atypical behavior	Atypical behavior is an abnormality in a person's actions, which can be controlled or modulated by the will of the individual. While abnormal behaviors can be difficult to control, they are distinct from other abnormal actions that cannot be affected by the individual's will.
HP:0002460	Distal muscle weakness	Reduced strength of the musculature of the distal extremities.
HP:0001348	Brisk reflexes	Tendon reflexes that are noticeably more active than usual (conventionally denoted 3+ on clinical examination). Brisk reflexes may or may not indicate a neurological lesion. They are distinguished from hyperreflexia by the fact that hyerreflexia is characterized by hyperactive repeating (clonic) reflexes, which are considered to be always abnormal.
HP:0000020	Urinary incontinence	Loss of the ability to control the urinary bladder leading to involuntary urination.
HP:0002072	Chorea	Chorea (Greek for 'dance') refers to widespread arrhythmic involuntary movements of a forcible, jerky and restless fashion. It is a random-appearing sequence of one or more discrete involuntary movements or movement fragments. Movements appear random because of variability in timing, duration or location. Each movement may have a distinct start and end. However, movements may be strung together and thus may appear to flow randomly from one muscle group to another. Chorea can involve the trunk, neck, face, tongue, and extremities.
HP:0011471	Gastrostomy tube feeding in infancy	Feeding problem necessitating gastrostomy tube feeding.
HP:0002094	Dyspnea	Difficult or labored breathing. Dyspnea is a subjective feeling only the patient can rate, e.g., on a Borg scale.
HP:0008619	Bilateral sensorineural hearing impairment	A bilateral form of sensorineural hearing impairment.
HP:0010549	Weakness due to upper motor neuron dysfunction	Paralysis of voluntary muscles means loss of contraction due to interruption of one or more motor pathways from the brain to the muscle fibers. Although the word paralysis is often used interchangeably to mean either complete or partial loss of muscle strength, it is preferable to use paralysis or plegia for complete or severe loss of muscle strength, and paresis for partial or slight loss. Paralysis due to lesions of the principle motor tracts is related to a lesion in the corticospinal, corticobulbar or brainstem descending (subcorticospinal) neurons.
HP:0000734	Disinhibition	Reduced ability to control, or a failure to resist a temptation, urge, or impulse. Examples include disregard for social conventions, general impulsivity, and poor risk assessment.
HP:0000738	Hallucinations	Perceptions in a conscious and awake state that, in the absence of external stimuli, have qualities of real perception. These perceptions are vivid, substantial, and located in external objective space.
HP:0002530	Axial dystonia	A type of dystonia that affects the midline muscles, i.e., the chest, abdominal, and back muscles.
HP:0001251	Ataxia	Cerebellar ataxia refers to ataxia due to dysfunction of the cerebellum. This causes a variety of elementary neurological deficits including asynergy (lack of coordination between muscles, limbs and joints), dysmetria (lack of ability to judge distances that can lead to under- or overshoot in grasping movements), and dysdiadochokinesia (inability to perform rapid movements requiring antagonizing muscle groups to be switched on and off repeatedly).
HP:0002425	Anarthria	A defect in the motor ability that enables speech.
HP:0000639	Nystagmus	Rhythmic, involuntary oscillations of one or both eyes related to abnormality in fixation, conjugate gaze, or vestibular mechanisms.
HP:0002650	Scoliosis	The presence of an abnormal lateral curvature of the spine.
HP:0002180	Neurodegeneration	Progressive loss of neural cells and tissue.
HP:0001264	Spastic diplegia	Spasticity (neuromuscular hypertonia) primarily in the muscles of the legs, hips, and pelvis.
HP:0001283	Bulbar palsy	Bulbar weakness (or bulbar palsy) refers to bilateral impairment of function of the lower cranial nerves IX, X, XI and XII, which occurs due to lower motor neuron lesion either at nuclear or fascicular level in the medulla or from bilateral lesions of the lower cranial nerves outside the brain-stem. Bulbar weakness is often associated with difficulty in chewing, weakness of the facial muscles, dysarthria, palatal weakness and regurgitation of fluids, dysphagia, and dysphonia.
HP:0030192	Fatigable weakness of bulbar muscles	A type of weakness of the bulbar muscles (muscles of the mouth and throat responsible for speech and swallowing) that occurs after a muscle group is used and lessens if the muscle group has some rest. That is, there is diminution of strength with repetitive muscle actions.
HP:0003701	Proximal muscle weakness	A lack of strength of the proximal muscles.
HP:0003693	Distal amyotrophy	Muscular atrophy affecting muscles in the distal portions of the extremities.
HP:0012378	Fatigue	A subjective feeling of tiredness characterized by a lack of energy and motivation.
HP:0002540	Inability to walk	Incapability to ambulate.
HP:0002483	Bulbar signs
HP:0002366	Abnormal lower motor neuron morphology	Any structural anomaly of the lower motor neuron.
HP:0002355	Difficulty walking	Reduced ability to walk (ambulate).
HP:0001263	Global developmental delay	A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. This term should only be used to describe children younger than five years of age.
HP:0001300	Parkinsonism	Characteristic neurologic anomaly resulting from degeneration of dopamine-generating cells in the substantia nigra, a region of the midbrain, characterized clinically by shaking, rigidity, slowness of movement and difficulty with walking and gait.
HP:0003324	Generalized muscle weakness	Generalized weakness or decreased strength of the muscles, affecting both distal and proximal musculature.
HP:0007126	Proximal amyotrophy	Amyotrophy (muscular atrophy) affecting the proximal musculature.
HP:0012531	Pain	An unpleasant sensory and emotional experience associated with actual or potential tissue damage, or described in terms of such damage.
HP:0025425	Laryngospasm	A spasm (involuntary contraction) of the vocal cords that can make it difficult to speak or breathe.
HP:0000716	Depression	Frequently experiencing feelings of being down, miserable, and/or hopeless; struggling to recover from these moods; having a pessimistic outlook on the future; feeling a pervasive sense of shame; having a low self-worth; experiencing thoughts of suicide and engaging in suicidal behavior.
HP:0002380	Fasciculations	Fasciculations are observed as small, local, involuntary muscle contractions (twitching) visible under the skin. Fasciculations result from increased irritability of an axon (which in turn is often a manifestation of disease of a motor neuron). This leads to sporadic discharges of all the muscle fibers controlled by the axon in isolation from other motor units.
HP:0002345	Action tremor	A tremor present when the limbs are active, either when outstretched in a certain position or throughout a voluntary movement.
HP:0002300	Mutism	Inability to speak or communicate verbally past the age of typical language development.
HP:0000741	Apathy	Apathy is a quantitative reduction of motivation and the initiation and persistence of goal-directed behavior, where the accompanying emotions, thoughts, and social interactions are also suppressed.
HP:0000713	Agitation	A state of extreme restlessness and excessive motor activity is associated with mental distress or a feeling of inner tension.
HP:0002167	Abnormality of speech or vocalization	Abnormalities in the sound of a person's speech or vocalization are not necessarily associated with a known physical cause or due to stuttering or stammering.
HP:0002186	Apraxia	A defect in the understanding of complex motor commands and in the execution of certain learned movements, i.e., deficits in the cognitive components of learned movements.
HP:0001332	Dystonia	An abnormally increased muscular tone that causes fixed abnormal postures. There is a slow, intermittent twisting motion that leads to exaggerated turning and posture of the extremities and trunk.
HP:0002174	Postural tremor	A type of tremors that is triggered by holding a limb in a fixed position.
HP:0002579	Gastrointestinal dysmotility	Abnormal intestinal contractions, such as spasms and intestinal paralysis, related to the loss of the ability of the gut to coordinate muscular activity because of endogenous or exogenous causes.
HP:0002529	Neuronal loss in central nervous system

PRSS36 NM_173502.5 Whole gene - Size : 11,157 bases

pLI : 0 LOEUF : 1.07 sHet : 0.004 pHaplo : 0.21 pTriplo : 0.68
Location : 31,150,247 - 31,161,404

Database :

DecipherGenomics OMIM:610560 GTEx Portal Human Protein Atlas Ensembl

SPNS1 NM_032038.3 Whole gene - Size : 10,327 bases

pLI : 0.02 LOEUF : 0.6 sHet : 0.073 pHaplo : 0.07 pTriplo : 0.73
Location : 28,985,542 - 28,995,869

Database :

DecipherGenomics OMIM:612583 GTEx Portal Human Protein Atlas Ensembl

STX4 NM_004604.5 Whole gene - Size : 10,086 bases

pLI : 0 LOEUF : 1.16 sHet : 0.004 pHaplo : 0.06 pTriplo : 0.34
Location : 31,044,210 - 31,054,296

Database :

DecipherGenomics PanelApp OMIM:186591 GTEx Portal Human Protein Atlas Ensembl

ZNF646 NM_014699.4 Whole gene - Size : 9,774 bases

pLI : 0 LOEUF : 0.52 sHet : 0.065 pHaplo : 0.33 pTriplo : 0.8
Location : 31,085,743 - 31,095,517

Database :

DecipherGenomics OMIM:619299 GTEx Portal Human Protein Atlas Ensembl

MAPK3 NM_002746.3 Whole gene - Size : 9,401 bases

pLI : 0.04 LOEUF : 0.61 sHet : 0.026 pHaplo : 0.08 pTriplo : 0.95
Location : 30,125,426 - 30,134,827

Database :

DecipherGenomics PanelApp OMIM:601795 GTEx Portal Human Protein Atlas Ensembl

SFARI (Autism Database) :

Gene Score : 2

Is Not Syndromic

No EAGLE Score

Reports : 6

PPP4C NM_002720.3 Whole gene - Size : 9,398 bases

pLI : 0.46 LOEUF : 0.49 sHet : 0.065 pHaplo : 0.34 pTriplo : 0.99
Location : 30,087,299 - 30,096,697

Database :

DecipherGenomics OMIM:602035 GTEx Portal Human Protein Atlas Ensembl

ARMC5 NM_001105247.2 Whole gene - Size : 9,086 bases

pLI : 0.11 LOEUF : 0.49 sHet : 0.039 pHaplo : 0.3 pTriplo : 0.8
Location : 31,469,401 - 31,478,487

Disease : Cushing syndrome due to macronodular adrenal hyperplasia

Source : Orphanet

Database :

DecipherGenomics PanelApp OMIM:615549 Orphanet:189427 HGNC:25781 PMID:24283224 GTEx Portal Human Protein Atlas Ensembl

Human Phenotype Ontology Show/Hide

HP:0002354	Memory impairment	An impairment of memory as manifested by a reduced ability to remember things such as dates and names, and increased forgetfulness.
HP:0100754	Mania	A state of abnormally elevated or irritable mood, arousal, and/or energy levels.
HP:0001952	Glucose intolerance	Glucose intolerance (GI) can be defined as dysglycemia that comprises both prediabetes and diabetes. It includes the conditions of impaired fasting glucose (IFG) and impaired glucose tolerance (IGT) and diabetes mellitus (DM).
HP:0003701	Proximal muscle weakness	A lack of strength of the proximal muscles.
HP:0008231	Macronodular adrenal hyperplasia
HP:0002659	Increased susceptibility to fractures	An abnormally increased tendency to fractures of bones caused by an abnormal reduction in bone strength that is generally associated with an increased risk of fracture.
HP:0000787	Nephrolithiasis	The presence of calculi (stones) in the kidneys.
HP:0003077	Hyperlipidemia	An elevated lipid concentration in the blood.
HP:0000859	Hyperaldosteronism	Overproduction of the mineralocorticoid aldosterone by the adrenal cortex.
HP:0100634	Neuroendocrine neoplasm	A tumor that originates from a neuroendocrine cell.
HP:0012378	Fatigue	A subjective feeling of tiredness characterized by a lack of energy and motivation.
HP:0000712	Emotional lability	Unstable emotional experiences and frequent mood changes; emotions that are easily aroused, intense, and/or disproportionate to events and circumstances.
HP:0100543	Cognitive impairment	Abnormal cognition is characterized by deficits in thinking, reasoning, or remembering.
HP:0500011	Moon facies	A rounded, puffy face with fat deposits in the temporal fossa and cheeks, a double chin.
HP:0001397	Hepatic steatosis	Steatosis is a term used to denote lipid accumulation within hepatocytes.
HP:0003581	Adult onset	Onset of disease manifestations in adulthood, defined here as at the age of 16 years or later.
HP:0008200	Primary hyperparathyroidism	A type of hyperparathyroidism caused by a primary abnormality of the parathyroid glands (e.g., adenoma, carcinoma, hyperplasia). Primary hyperparathyroidism is associated with hyercalcemia.
HP:0002893	Pituitary adenoma	A benign epithelial tumor derived from intrinsic cells of the adenohypophysis (anterior pituitary).
HP:0012030	Increased urinary cortisol level	Abnormally increased concentration of cortisol in the urine.
HP:0012743	Abdominal obesity	Excessive fat around the stomach and abdomen.
HP:0000725	Psychotic episodes	Periods of time during which an individual experiences significant disturbances in their thoughts, perceptions, emotions, and behavior, resulting in a loss of touch with reality. These episodes are hallmark features of psychotic disorders such as schizophrenia, schizoaffective disorder, and certain forms of bipolar disorder.
HP:0007126	Proximal amyotrophy	Amyotrophy (muscular atrophy) affecting the proximal musculature.
HP:0000939	Osteoporosis	Osteoporosis is a systemic skeletal disease characterized by low bone density and microarchitectural deterioration of bone tissue with a consequent increase in bone fragility. According to the WHO criteria, osteoporosis is defined as a BMD that lies 2.5 standard deviations or more below the average value for young healthy adults (a T-score below -2.5 SD).
HP:0001007	Hirsutism	Abnormally increased hair growth referring to a male pattern of body hair (androgenic hair).
HP:0031845	Abnormal libido	Any deviation from the normal sexual drive or desire for sexual activity.
HP:0001596	Alopecia	A noncongenital process of hair loss, which may progress to partial or complete baldness.
HP:0025383	Dorsocervical fat pad	An area of fat accumulation at the back of the neck in the form of a hump.
HP:0002858	Meningioma	The presence of a meningioma, i.e., a benign tumor originating from the dura mater or arachnoid mater.
HP:0003466	Paradoxical increased cortisol secretion on dexamethasone suppression test
HP:0000006	Autosomal dominant inheritance	A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
HP:0002920	Decreased circulating ACTH concentration	The concentration of corticotropin, also known as adrenocorticotropic hormone (ACTH), is below the lower limit of normal in the blood circulation.
HP:0000858	Irregular menstruation	Abnormally high variation in the amount of time between periods.
HP:0000716	Depression	Frequently experiencing feelings of being down, miserable, and/or hopeless; struggling to recover from these moods; having a pessimistic outlook on the future; feeling a pervasive sense of shame; having a low self-worth; experiencing thoughts of suicide and engaging in suicidal behavior.
HP:0004324	Increased body weight	Abnormally increased body weight.
HP:0003074	Hyperglycemia	An increased concentration of glucose in the blood.
HP:0000311	Round face	The facial appearance is more circular than usual as viewed from the front.
HP:0001050	Plethora
HP:0001442	Typified by somatic mosaicism	Description of conditions in which affected individuals typically display somatic mosaicism, i.e., genetically distinct populations of somatic cells in a given organism caused by DNA mutations, epigenetic alterations of DNA, chromosomal abnormalities or the spontaneous reversion of inherited mutations. In many conditions typified by somatic mosaicism, constitutive mutation is lethal and cases are exclusively or predominantly mosaic.
HP:0001065	Striae distensae	Thinned, erythematous, depressed bands of atrophic skin. Initially, striae appear as flattened and thinned, pinkish linear regions of the skin. Striae tend to enlarge in length and become reddish or purplish. Later, striae tend to appear as white, depressed bands that are parallel to the lines of skin tension. Striae distensae occur most often in areas that have been subject to distension such as the lower back, buttocks, thighs, breast, abdomen, and shoulders.
HP:0031077	Abnormal response to corticotropin releasing hormone stimulation test	An anomalous response to the corticotropin releasing hormone (CRH) stimulation test. Normally,CRH is released by the hypothalamus to induce adrenocorticotropic hormone (ACTH) release by the anterior pituitary. In the stimulation test, CRH is administered intravenously and ACTH and cortisol are measured at intervals.
HP:0005584	Renal cell carcinoma	A type of carcinoma of the kidney with origin in the epithelium of the proximal convoluted renal tubule.
HP:0000978	Bruising susceptibility	An ecchymosis (bruise) refers to the skin discoloration caused by the escape of blood into the tissues from ruptured blood vessels. This term refers to an abnormally increased susceptibility to bruising. The corresponding phenotypic abnormality is generally elicited on medical history as a report of frequent ecchymoses or bruising without adequate trauma.
HP:0000822	Hypertension	The presence of chronic increased pressure in the systemic arterial system.
HP:0001061	Acne	A skin condition in which there is an increase in sebum secretion by the pilosebaceous apparatus associated with open comedones (blackheads), closed comedones (whiteheads), and pustular nodules (papules, pustules, and cysts).
HP:0003118	Increased circulating cortisol level	Overproduction of the hormone of cortisol by the adrenal cortex, resulting in a characteristic combination of clinical symptoms termed Cushing syndrome, with truncal obesity, a round, full face, striae atrophicae and acne, muscle weakness, and other features.

SULT1A1 NM_001055.4 Whole gene - Size : 9,083 bases

pLI : 0 LOEUF : 1.54 sHet : 0.005 pHaplo : 0.29 pTriplo : 0.41
Location : 28,616,517 - 28,625,600

Database :

DecipherGenomics OMIM:171150 GTEx Portal Human Protein Atlas Ensembl

ZNF629 NM_001080417.3 Whole gene - Size : 8,749 bases

pLI : 1 LOEUF : 0.17 sHet : 0.234 pHaplo : 0.56 pTriplo : 0.96
Location : 30,789,777 - 30,798,526

Database :

DecipherGenomics OMIM:619587 GTEx Portal Human Protein Atlas Ensembl

GDPD3 NM_024307.3 Whole gene - Size : 8,727 bases

pLI : 0 LOEUF : 1.51 sHet : 0.004 pHaplo : 0.13 pTriplo : 0.35
Location : 30,116,131 - 30,124,858

Database :

DecipherGenomics OMIM:616318 GTEx Portal Human Protein Atlas Ensembl

SPN NM_003123.6 Whole gene - Size : 7,897 bases

pLI : 0.01 LOEUF : 1.94 sHet : 0.031 pHaplo : 0.09 pTriplo : 0.16
Location : 29,674,300 - 29,682,197

Database :

DecipherGenomics OMIM:182160 GTEx Portal Human Protein Atlas Ensembl

Human Phenotype Ontology Show/Hide

HP:0006233	Osteoarthritis of the distal interphalangeal joint
HP:0000006	Autosomal dominant inheritance	A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
HP:0002829	Arthralgia	Joint pain.
HP:0002758	Osteoarthritis	Degeneration (wear and tear) of articular cartilage, i.e., of the joint surface. Joint degeneration may be accompanied by osteophytes (bone overgrowth), narrowing of the joint space, regions of sclerosis at the joint surface, or joint deformity.
HP:0001387	Joint stiffness	Joint stiffness is a perceived sensation of tightness in a joint or joints when attempting to move them after a period of inactivity. Joint stiffness typically subsides over time.
HP:0006226	Osteoarthritis of the first carpometacarpal joint

SLC5A2 NM_003041.4 Whole gene - Size : 7,858 bases

pLI : 0 LOEUF : 1.12 sHet : 0.007 pHaplo : 0.23 pTriplo : 0.38
Location : 31,494,323 - 31,502,181

Disease : Familial renal glucosuria

Source : Orphanet

Database :

DecipherGenomics PanelApp OMIM:182381 Orphanet:69076 HGNC:11037 PMID:14614622 PMID:21165652 PMID:24255686 GTEx Portal Human Protein Atlas Ensembl

Human Phenotype Ontology Show/Hide

HP:0004924	Abnormal oral glucose tolerance	An abnormal resistance to glucose, i.e., a reduction in the ability to maintain glucose levels in the blood stream within normal limits following oral administration of glucose.
HP:0000010	Recurrent urinary tract infections	Repeated infections of the urinary tract.
HP:0008855	Moderate postnatal growth retardation	A moderate degree of slow or limited growth after birth, being between three and four standard deviations below age- and sex-related norms.
HP:0001946	Ketosis	Presence of elevated levels of ketone bodies in the body.
HP:0040214	Abnormal circulating insulin concentration	An abnormal concentration of insulin in the body.
HP:0000006	Autosomal dominant inheritance	A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
HP:0003074	Hyperglycemia	An increased concentration of glucose in the blood.
HP:0010677	Enuresis nocturna	Enuresis occurring during sleeping hours.
HP:0000112	Nephropathy	A nonspecific term referring to disease or damage of the kidneys.
HP:0000805	Enuresis	Lack of the ability to control the urinary bladder leading to involuntary urination at an age where control of the bladder should already be possible.
HP:0000124	Renal tubular dysfunction	Abnormal function of the renal tubule. The basic functional unit of the kidney, the nephron, consists of a renal corpuscle attached to a renal tubule, with roughly 0.8 to 1.5 nephrons per adult kidney. The functions of the renal tubule include reabsorption of water, electrolytes, glucose, and amino acids and secretion of substances such as uric acid.
HP:0001959	Polydipsia	Excessive thirst manifested by excessive fluid intake.
HP:0003076	Glycosuria	An increased concentration of glucose in the urine.
HP:0002591	Polyphagia	A neurological anomaly with gross overeating associated with an abnormally strong desire or need to eat.
HP:0003828	Variable expressivity	A variable severity of phenotypic features.
HP:0040217	Elevated hemoglobin A1c	An increased concentration of hemoglobin A1c (HbA1c), which is the product of nonenzymatic attachment of a hexose molecule to the N-terminal amino acid of the hemoglobin molecule. This reaction is dependent on blood glucose concentration, and therefore reflects the mean glucose concentration over the previous 8 to 12 weeks. The HbA1c level provides a better indication of long-term glycemic control than one-time blood or urinary glucose measurements.
HP:0000103	Polyuria	An increased rate of urine production.
HP:0000007	Autosomal recessive inheritance	A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
HP:0000855	Insulin resistance	Increased resistance towards insulin, that is, diminished effectiveness of insulin in reducing blood glucose levels.
HP:0001944	Dehydration

ORAI3 NM_152288.3 Whole gene - Size : 7,393 bases

pLI : 0.03 LOEUF : 1.23 sHet : 0.006 pHaplo : 0.14 pTriplo : 0.49
Location : 30,960,389 - 30,967,782

Database :

DecipherGenomics OMIM:610930 GTEx Portal Human Protein Atlas Ensembl

CD19 NM_001770.6 Whole gene - Size : 7,377 bases

pLI : 0.9 LOEUF : 0.35 sHet : 0.047 pHaplo : 0.4 pTriplo : 0.34
Location : 28,943,286 - 28,950,663

Disease : Common variable immunodeficiency

Source : Orphanet

Database :

DecipherGenomics PanelApp OMIM:107265 Orphanet:1572 HGNC:1633 GTEx Portal Human Protein Atlas Ensembl

Human Phenotype Ontology Show/Hide

HP:0002633	Vasculitis	Inflammation of blood vessel.
HP:0002205	Recurrent respiratory infections	An increased susceptibility to respiratory infections as manifested by a history of recurrent respiratory infections.
HP:0002023	Anal atresia	Congenital absence of the anus, i.e., the opening at the bottom end of the intestinal tract.
HP:0002014	Diarrhea	Abnormally increased frequency (usually defined as three or more) loose or watery bowel movements a day.
HP:0002960	Autoimmunity	The occurrence of an immune reaction against the organism's own cells or tissues.
HP:0002829	Arthralgia	Joint pain.
HP:0002910	Elevated hepatic transaminase	Elevations of the levels of SGOT and SGPT in the serum. SGOT (serum glutamic oxaloacetic transaminase) and SGPT (serum glutamic pyruvic transaminase) are transaminases primarily found in the liver and heart and are released into the bloodstream as the result of liver or heart damage. SGOT and SGPT are used clinically mainly as markers of liver damage.
HP:0002837	Recurrent bronchitis	An increased susceptibility to bronchitis as manifested by a history of recurrent bronchitis.
HP:0002091	Restrictive ventilatory defect	A functional defect characterized by reduced total lung capacity (TLC) not associated with abnormalities of expiratory airflow or airway resistance. Spirometrically, a restrictive defect is defined as FEV1 (forced expiratory volume in 1 second) and FVC (forced vital capacity) less than 80 per cent. Restrictive lung disease may be caused by alterations in lung parenchyma or because of a disease of the pleura, chest wall, or neuromuscular apparatus.
HP:0002097	Emphysema
HP:0003621	Juvenile onset	Onset of signs or symptoms of disease between the age of 5 and 15 years.
HP:0001878	Hemolytic anemia	A type of anemia caused by premature destruction of red blood cells (hemolysis).
HP:0011839	Abnormal T cell count	A deviation from the normal count of T cells.
HP:0011108	Recurrent sinusitis	A recurrent form of sinusitis.
HP:0000007	Autosomal recessive inheritance	A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
HP:0002718	Recurrent bacterial infections	Increased susceptibility to bacterial infections, as manifested by recurrent episodes of bacterial infection.
HP:0002721	Immunodeficiency	Failure of the immune system to protect the body adequately from infection, due to the absence or insufficiency of some component process or substance.
HP:0030388	Decreased proportion of class-switched memory B cells	A reduction in the normal proportion of class-switched memory B cells (CD19+/CD27+/IgM+/IgD+) relative to the total number of B cells. Marginal zone B cells undergo limited somatic hypermutation and produce high-affinity IgM and some IgG, whereas class-switched memory B cells synthetize IgG, IgM, and IgA.
HP:0006783	Posterior pharyngeal cleft
HP:0002850	Decreased circulating total IgM	An abnormally decreased level of immunoglobulin M (IgM) in blood.
HP:0000006	Autosomal dominant inheritance	A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
HP:0001744	Splenomegaly	Abnormal increased size of the spleen.
HP:0000388	Otitis media	Inflammation or infection of the middle ear.
HP:0002729	Follicular hyperplasia	Lymphadenopathy (enlargement of lymph nodes) owing to hyperplasia of follicular (germinal) centers.
HP:0001287	Meningitis	Inflammation of the meninges.
HP:0005387	Combined immunodeficiency	A group of phenotypically heterogeneous genetic disorders characterized by profound deficiencies of T- and B-cell function, which predispose the patients to both infectious and noninfectious complications.
HP:0005435	Impaired T cell function	Abnormally reduced ability of T cells to perform their functions in cell-mediated immunity.
HP:0000248	Brachycephaly	An abnormality of skull shape characterized by a decreased anterior-posterior diameter. That is, a cephalic index greater than 81%. Alternatively, an apparently shortened anteroposterior dimension (length) of the head compared to width.
HP:0002716	Lymphadenopathy	Enlargment (swelling) of a lymph node.
HP:0000389	Chronic otitis media	Chronic otitis media refers to fluid, swelling, or infection of the middle ear that does not heal and may cause permanent damage to the ear.
HP:0003593	Infantile onset	Onset of signs or symptoms of disease between 28 days to one year of life.
HP:0001392	Abnormality of the liver	An abnormality of the liver.
HP:0032139	Reduced isohemagglutinin level	Level of isohemagglutinin reduced below expected concentration. An isohemagglutinin refers to the naturally occurring antibodies in the ABO blood group system (i.e., anti-A in a group B person, anti-B in a group A person, and anti-A, anti-B, and anti-A,B in a group O person).
HP:0004313	Decreased circulating antibody level	An abnormally decreased level of immunoglobulin in blood.
HP:0002090	Pneumonia	Inflammation of any part of the lung parenchyma.
HP:0032134	Chronic decreased circulating total IgG	A lasting reduction beneath the normal level of total immunoglobulin G (IgG) in the blood.
HP:0100723	Gastrointestinal stroma tumor
HP:0410301	Partial absence of specific antibody response to unconjugated pneumococcus vaccine	A reduced ability to synthesize postvaccination antibodies against a pneumococcus antigen, as measured by antibody titer determination following vaccination.
HP:0000403	Recurrent otitis media	Increased susceptibility to otitis media, as manifested by recurrent episodes of otitis media.
HP:0002720	Decreased circulating IgA level	Decreased levels of immunoglobulin A (IgA).
HP:0002664	Neoplasm	An organ or organ-system abnormality that consists of uncontrolled autonomous cell-proliferation which can occur in any part of the body as a benign or malignant neoplasm (tumor).
HP:0001973	Autoimmune thrombocytopenia	The presence of thrombocytopenia in combination with detection of antiplatelet antibodies.
HP:0001531	Failure to thrive in infancy
HP:0002110	Bronchiectasis	Persistent abnormal dilatation of the bronchi owing to localized and irreversible destruction and widening of the large airways.
HP:0002240	Hepatomegaly	Abnormally increased size of the liver.
HP:0011463	Childhood onset	Onset of disease at the age of between 1 and 5 years.
HP:0000509	Conjunctivitis	Inflammation of the conjunctiva.
HP:0002665	Lymphoma	A cancer originating in lymphocytes and presenting as a solid tumor of lymhpoid cells.
HP:0001888	Lymphopenia	A reduced number of lymphocytes in the blood.
HP:0000979	Purpura	Purpura (from Latin: purpura, meaning "purple") is the appearance of red or purple discolorations on the skin that do not blanch on applying pressure. They are caused by bleeding underneath the skin. This term refers to an abnormally increased susceptibility to developing purpura. Purpura are larger than petechiae.
HP:0004315	Decreased circulating IgG level	An abnormally decreased level of immunoglobulin G (IgG) in blood.
HP:0010975	Abnormal B cell count	A deviation from the normal count of B cells, i.e., the cells that are formed in the bone marrow, migrate to the peripheral lymphatic system, and mature into plasma cells or memory cells.
HP:0006532	Recurrent pneumonia	An increased susceptibility to pneumonia as manifested by a history of recurrent episodes of pneumonia.

MYL11 NM_013292.5 Whole gene - Size : 7,057 bases

pLI : 0.76 LOEUF : 0.52
Location : 30,382,255 - 30,389,312

Disease : mylpf arthrogryposis (monoallelic)

Source : DDG2P

Database :

DecipherGenomics OMIM:617378 GTEx Portal Human Protein Atlas Ensembl

Human Phenotype Ontology Show/Hide

HP:0000278	Retrognathia	An abnormality in which the mandible is mislocalised posteriorly.
HP:0004209	Clinodactyly of the 5th finger	Clinodactyly refers to a bending or curvature of the fifth finger in the radial direction (i.e., towards the 4th finger).
HP:0000175	Cleft palate	Cleft palate is a developmental defect of the palate resulting from a failure of fusion of the palatine processes and manifesting as a separation of the roof of the mouth (soft and hard palate).
HP:0100490	Camptodactyly of finger	The distal interphalangeal joint and/or the proximal interphalangeal joint of the fingers cannot be extended to 180 degrees by either active or passive extension.
HP:0002987	Elbow flexion contracture	An elbow contracture that limits the ability of the elbow joint to be extended (straightened), meaning that the elbow is fixed in an flexed (bent) position.
HP:0000028	Cryptorchidism	Testis in inguinal canal. That is, absence of one or both testes from the scrotum owing to failure of the testis or testes to descend through the inguinal canal to the scrotum.
HP:0000205	Pursed lips	An abnormality of the appearance of the face caused by constant contraction of the lips leading to a puckered or pursed appearance.
HP:0001239	Wrist flexion contracture	A chronic loss of wrist joint motion due to structural changes in muscle, tendons, ligaments, or skin that prevent normal movement of the joints of the wrist.
HP:0003044	Shoulder flexion contracture	Chronic reduction in active and passive mobility of the shoulder joint due to structural changes in muscle, tendons, ligaments, or skin that prevents normal movement.
HP:0006380	Knee flexion contracture	A type of knee joint contracture in which the knee is in a fixed bent (flexed) configuration such that it cannot be straightened actively or passively.
HP:0001836	Camptodactyly of toe	Camptodactyly is a painless flexion contracture of the proximal interphalangeal (PIP) joint that is usually gradually progressive. This term refers to camptodactyly of one or more toes.
HP:0000233	Thin vermilion border	Height of the vermilion of the medial part of the lip more than 2 SD below the mean, or apparently reduced height of the vermilion of the lip in the frontal view. The vermilion is the red part of the lips (and confusingly, the vermilion itself is also often referred to as being equivalent the lips).
HP:0001762	Talipes equinovarus	Talipes equinovarus (also called clubfoot) typically has four main components: inversion and adduction of the forefoot; inversion of the heel and hindfoot; equinus (limitation of extension) of the ankle and subtalar joint; and internal rotation of the leg.
HP:0003577	Congenital onset	A phenotypic abnormality that is present at birth.
HP:0003273	Hip contracture	Lack of full passive range of motion (restrictions in flexion, extension, or other movements) of the hip joint resulting from structural changes of non-bony tissues, such as muscles, tendons, ligaments, joint capsules and/or skin.
HP:0000007	Autosomal recessive inheritance	A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
HP:0001181	Adducted thumb	In the resting position, the tip of the thumb is on, or near, the palm, close to the base of the fourth or fifth finger.
HP:0000160	Narrow mouth	Distance between the commissures of the mouth more than 2 SD below the mean. Alternatively, an apparently decreased width of the oral aperture (subjective).
HP:0000581	Blepharophimosis	A fixed reduction in the vertical distance between the upper and lower eyelids with short palpebral fissures.
HP:0000466	Limited neck range of motion
HP:0004322	Short stature	A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to "short stature" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms).
HP:0000470	Short neck	Diminished length of the neck.
HP:0000006	Autosomal dominant inheritance	A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
HP:0006070	Metacarpophalangeal joint contracture	A chronic loss of joint motion in metacarpophalangeal joints due to structural changes in muscle, tendons, ligaments, or skin that prevents normal movement.
HP:0002650	Scoliosis	The presence of an abnormal lateral curvature of the spine.
HP:0410030	Cleft lip	A gap in the lip or lips.
HP:0000218	High palate	Height of the palate more than 2 SD above the mean (objective) or palatal height at the level of the first permanent molar more than twice the height of the teeth (subjective).
HP:0033357	Limited head rotation	Reduced range of motion turning the head side to side.
HP:0004325	Decreased body weight	Abnormally low body weight.
HP:0010880	Increased nuchal translucency	Nuchal translucency is the sonographic appearance of subcutaneous accumulation of liquid in the back of the fetal neck in the first trimester of pregnancy (11-14 gestational weeks of pregnancy).
HP:0000193	Bifid uvula	Uvula separated into two parts most easily seen at the tip.
HP:0001838	Rocker bottom foot	The presence of both a prominent heel and a convex contour of the sole.

CTF1 NM_001330.5 Whole gene - Size : 6,933 bases

pLI : 0.04 LOEUF : 1.74 pHaplo : 0.16 pTriplo : 0.22
Location : 30,907,935 - 30,914,868

Database :

DecipherGenomics PanelApp OMIM:600435 GTEx Portal Human Protein Atlas Ensembl

BCKDK NM_005881.4 Whole gene - Size : 6,684 bases

pLI : 0 LOEUF : 0.87 sHet : 0.016 pHaplo : 0.07 pTriplo : 0.68
Location : 31,117,428 - 31,124,112

Disease : Autism-epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiency

Source : Orphanet

Database :

DecipherGenomics PanelApp OMIM:614901 Orphanet:308410 HGNC:16902 PMID:22956686 GTEx Portal Human Protein Atlas Ensembl

Human Phenotype Ontology Show/Hide

HP:0001249	Intellectual disability	Intellectual disability, previously referred to as mental retardation, is characterized by subnormal intellectual functioning that occurs during the developmental period. It is defined by an IQ score below 70.
HP:0000717	Autism	Autism is a neurodevelopmental disorder characterized by impaired social interaction and communication, and by restricted and repetitive behavior. Autism begins in childhood. It is marked by the presence of markedly abnormal or impaired development in social interaction and communication and a markedly restricted repertoire of activity and interest. Manifestations of the disorder vary greatly depending on the developmental level and chronological age of the individual (DSM-IV).
HP:0001250	Seizure	A seizure is an intermittent abnormality of nervous system physiology characterised by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain.
HP:0010892	Abnormal circulating branched chain amino acid concentration	Any deviation from the normal concentration of a branched chain family amino acid in the blood circulation.

SFARI (Autism Database) :

Gene Score : 1

Is Not Syndromic

EAGLE Score : 3.1

Reports : 6

DCTPP1 NM_024096.2 Whole gene - Size : 6,415 bases

pLI : 0.46 LOEUF : 0.84 sHet : 0.017 pHaplo : 0.16 pTriplo : 0.59
Location : 30,434,936 - 30,441,351

Database :

DecipherGenomics OMIM:615840 GTEx Portal Human Protein Atlas Ensembl

TGFB1I1 NM_001042454.3 Whole gene - Size : 6,375 bases

pLI : 0.03 LOEUF : 0.58 sHet : 0.01 pHaplo : 0.35 pTriplo : 0.5
Location : 31,482,906 - 31,489,281

Database :

DecipherGenomics OMIM:602353 GTEx Portal Human Protein Atlas Ensembl

PAGR1 NM_024516.4 Whole gene - Size : 6,337 bases

pLI : 0.74 LOEUF : 0.54 sHet : 0.013 pHaplo : 0.4 pTriplo : 0.59
Location : 29,827,473 - 29,833,810

Database :

DecipherGenomics OMIM:612033 GTEx Portal Human Protein Atlas Ensembl

NUPR1 NM_012385.3 Whole gene - Size : 6,300 bases

pLI : 0 LOEUF : 1.88 sHet : 0.006 pHaplo : 0.17 pTriplo : 0.41
Location : 28,544,029 - 28,550,329

Database :

DecipherGenomics OMIM:614812 GTEx Portal Human Protein Atlas Ensembl

ALDOA NM_001243177.4 Whole gene - Size : 6,293 bases

pLI : 0 LOEUF : 0.76 sHet : 0.03 pHaplo : 0.19 pTriplo : 0.31
Location : 30,075,485 - 30,081,778

Disease : Glycogen storage disease due to aldolase A deficiency

Source : Orphanet

Database :

DecipherGenomics PanelApp OMIM:103850 Orphanet:57 HGNC:414 GTEx Portal Human Protein Atlas Ensembl

Human Phenotype Ontology Show/Hide

HP:0003593	Infantile onset	Onset of signs or symptoms of disease between 28 days to one year of life.
HP:0003557	Increased variability in muscle fiber diameter	An abnormally high degree of muscle fiber size variation. This phenotypic feature can be observed upon muscle biopsy.
HP:0000952	Jaundice	Yellow pigmentation of the skin due to bilirubin, which in turn is the result of increased bilirubin concentration in the bloodstream.
HP:0003555	Muscle fiber splitting	Fiber splitting or branching is a common finding in human and rat skeletal muscle pathology. Fiber splitting refers to longitudinal halving of the complete fiber, while branching originates from a regenerating end of a necrotic fiber as invaginations of the sarcolemma. In fiber branching, one end of the fiber remains intact as a single entity, while the other end has several branches.
HP:0001919	Acute kidney injury	Sudden loss of renal function, as manifested by decreased urine production, and a rise in serum creatinine or blood urea nitrogen concentration (azotemia).
HP:0001270	Motor delay	A type of Developmental delay characterized by a delay in acquiring motor skills.
HP:0003199	Decreased muscle mass
HP:0020181	Reduced haptoglobin level	An abnormally low concentration of haptoglobin in the blood circulation. Decreased haptoglobin in conjunction with increased reticulocyte count and anemia may indicate hemolysis. Decreased haptoglobin levels can also occur in the absence of hemolysis, due to cirrhosis of the liver, disseminated ovarian carcinomatosis, pulmonary sarcoidosis, and elevated estrogen state.
HP:0001082	Cholecystitis	The presence of inflammatory changes in the gallbladder.
HP:0002162	Low posterior hairline	Hair on the neck extends more inferiorly than usual.
HP:0003198	Myopathy	A disorder of muscle unrelated to impairment of innervation or neuromuscular junction.
HP:0003458	EMG: myopathic abnormalities	The presence of abnormal electromyographic patterns indicative of myopathy, such as small-short polyphasic motor unit potentials.
HP:0011675	Arrhythmia	Any cardiac rhythm other than the normal sinus rhythm. Such a rhythm may be either of sinus or ectopic origin and either regular or irregular. An arrhythmia may be due to a disturbance in impulse formation or conduction or both.
HP:0000750	Delayed speech and language development	A degree of language development that is significantly below the norm for a child of a specified age.
HP:0001903	Anemia	A reduction in erythrocytes volume or hemoglobin concentration.
HP:0009045	Exercise-induced rhabdomyolysis	Rhabdomyolysis induced by exercise.
HP:0000508	Ptosis	The upper eyelid margin is positioned 3 mm or more lower than usual and covers the superior portion of the iris (objective); or, the upper lid margin obscures at least part of the pupil (subjective).
HP:0001878	Hemolytic anemia	A type of anemia caused by premature destruction of red blood cells (hemolysis).
HP:0000007	Autosomal recessive inheritance	A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
HP:0002913	Myoglobinuria	Presence of myoglobin in the urine.
HP:0000286	Epicanthus	A fold of skin starting above the medial aspect of the upper eyelid and arching downward to cover, pass in front of and lateral to the medial canthus.
HP:0001510	Growth delay	A deficiency or slowing down of growth pre- and postnatally.
HP:0025435	Increased circulating lactate dehydrogenase concentration	An elevated level of the enzyme lactate dehydrogenase in the blood circulation.
HP:0003558	Viral infection-induced rhabdomyolysis	Rhabdomyolysis induced by a viral infection.
HP:0001945	Fever	Body temperature elevated above the normal range.
HP:0002240	Hepatomegaly	Abnormally increased size of the liver.
HP:0000823	Delayed puberty	Passing the age when puberty normally occurs with no physical or hormonal signs of the onset of puberty.
HP:0031964	Elevated circulating alanine aminotransferase concentration	An abnormally high concentration in the circulation of alanine aminotransferase (ALT).
HP:0003236	Elevated circulating creatine kinase concentration	An elevation of the level of the enzyme creatine kinase (also known as creatine phosphokinase (CK; EC 2.7.3.2) in the blood. CK levels can be elevated in a number of clinical disorders such as myocardial infarction, rhabdomyolysis, and muscular dystrophy.
HP:0004322	Short stature	A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to "short stature" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms).
HP:0008331	Elevated creatine kinase after exercise
HP:0012545	Reduced circulating aldolase concentration	Concentration of fructose 1,6-bisphosphate aldolase in the blood circulation below the lower limit of normal.
HP:0001324	Muscle weakness	Reduced strength of muscles.
HP:0000470	Short neck	Diminished length of the neck.
HP:0003326	Myalgia	Pain in muscle.
HP:0001744	Splenomegaly	Abnormal increased size of the spleen.
HP:0001249	Intellectual disability	Intellectual disability, previously referred to as mental retardation, is characterized by subnormal intellectual functioning that occurs during the developmental period. It is defined by an IQ score below 70.
HP:0100295	Muscle fiber atrophy
HP:0001895	Normochromic anemia
HP:0001930	Nonspherocytic hemolytic anemia
HP:0001897	Normocytic anemia	A kind of anemia in which the volume of the red blood cells is normal.
HP:0001081	Cholelithiasis	Hard, pebble-like deposits that form within the gallbladder.
HP:0002153	Hyperkalemia	An abnormally increased potassium concentration in the blood.
HP:0001252	Hypotonia	Hypotonia is an abnormally low muscle tone (the amount of tension or resistance to movement in a muscle). Even when relaxed, muscles have a continuous and passive partial contraction which provides some resistance to passive stretching. Hypotonia thus manifests as diminished resistance to passive stretching. Hypotonia is not the same as muscle weakness, although the two conditions can co-exist.
HP:0002904	Hyperbilirubinemia	An increased amount of bilirubin in the blood.
HP:0003641	Hemoglobinuria	The presence of free hemoglobin in the urine.
HP:0001328	Specific learning disability	Impairment of certain skills such as reading or writing, coordination, self-control, or attention that interfere with the ability to learn. The impairment is not related to a global deficiency of intelligence.
HP:0003756	Skeletal myopathy

CORO1A NM_007074.4 Whole gene - Size : 6,249 bases

pLI : 0.97 LOEUF : 0.32 sHet : 0.07 pHaplo : 0.24 pTriplo : 0.73
Location : 30,194,148 - 30,200,397

Disease : Severe combined immunodeficiency due to CORO1A deficiency

Source : Orphanet

Database :

DecipherGenomics PanelApp OMIM:605000 Orphanet:228003 HGNC:2252 PMID:23522482 GTEx Portal Human Protein Atlas Ensembl

Human Phenotype Ontology Show/Hide

HP:0003593	Infantile onset	Onset of signs or symptoms of disease between 28 days to one year of life.
HP:0002020	Gastroesophageal reflux	A condition in which the stomach contents leak backwards from the stomach into the esophagus through the lower esophageal sphincter.
HP:0007018	Attention deficit hyperactivity disorder	Attention deficit hyperactivity disorder (ADHD) manifests at age 2-3 years or by first grade at the latest. The main symptoms are distractibility, impulsivity, hyperactivity, and often trouble organizing tasks and projects, difficulty going to sleep, and social problems from being aggressive, loud, or impatient.
HP:0009098	Chronic oral candidiasis	Chronic accumulation and overgrowth of the fungus Candida albicans on the mucous membranes of the mouth, generally manifested as associated with creamy white lesions on the tongue or inner cheeks, occasionally spreading to the gums, tonsils, palate or oropharynx.
HP:0410300	Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vaccine	The inability to synthesize postvaccination antibodies against a pneumococcus antigen, as measured by antibody titer determination following vaccination.
HP:0000403	Recurrent otitis media	Increased susceptibility to otitis media, as manifested by recurrent episodes of otitis media.
HP:0001888	Lymphopenia	A reduced number of lymphocytes in the blood.
HP:0002783	Recurrent lower respiratory tract infections	An increased susceptibility to lower respiratory tract infections as manifested by a history of recurrent lower respiratory tract infections.
HP:0410295	Complete or near-complete absence of specific antibody response to tetanus vaccine	The inability to synthesize postvaccination antibodies against a tetanus antigen, as measured by antibody titer determination following vaccination.
HP:4000166	Post-vaccination varicella zoster virus infection	Infection with live, attenuated varicella-zoster virus following vaccination. This is an extreemely rare event that may indicate immunocompromise.
HP:0002788	Recurrent upper respiratory tract infections	An increased susceptibility to upper respiratory tract infections as manifested by a history of recurrent upper respiratory tract infections (running ears - otitis, sinusitis, pharyngitis, tonsillitis).
HP:0001263	Global developmental delay	A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. This term should only be used to describe children younger than five years of age.
HP:0000007	Autosomal recessive inheritance	A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
HP:0002721	Immunodeficiency	Failure of the immune system to protect the body adequately from infection, due to the absence or insufficiency of some component process or substance.

SFARI (Autism Database) :

Gene Score : 1

Is Not Syndromic

EAGLE Score : 0.7

Reports : 2

PRSS53 NM_001039503.3 Whole gene - Size : 6,191 bases

pLI : 0 LOEUF : 1.36 sHet : 0.004 pHaplo : 0.22 pTriplo : 0.66
Location : 31,094,758 - 31,100,949

Database :

DecipherGenomics OMIM:610561 GTEx Portal Human Protein Atlas Ensembl

TBX6 NM_004608.4 Whole gene - Size : 6,131 bases

pLI : 0.01 LOEUF : 0.69 sHet : 0.01 pHaplo : 0.14 pTriplo : 0.57
Location : 30,097,114 - 30,103,245

Disease : Autosomal dominant spondylocostal dysostosis

Source : Orphanet

Database :

DecipherGenomics PanelApp OMIM:602427 Orphanet:1797 HGNC:11605 PMID:23335591 GTEx Portal Human Protein Atlas Ensembl

Human Phenotype Ontology Show/Hide

HP:0005815	Supernumerary ribs	The presence of more than 12 rib pairs.
HP:0003298	Spina bifida occulta	The closed form of spina bifida with incomplete closure of a vertebral body with intact overlying skin.
HP:0010306	Short thorax	Reduced inferior to superior extent of the thorax.
HP:0003422	Vertebral segmentation defect	An abnormality related to a defect of vertebral separation during development.
HP:0002205	Recurrent respiratory infections	An increased susceptibility to respiratory infections as manifested by a history of recurrent respiratory infections.
HP:0000175	Cleft palate	Cleft palate is a developmental defect of the palate resulting from a failure of fusion of the palatine processes and manifesting as a separation of the roof of the mouth (soft and hard palate).
HP:0000269	Prominent occiput	Increased convexity of the occiput (posterior part of the skull).
HP:0000256	Macrocephaly	Occipitofrontal (head) circumference greater than 97th centile compared to appropriate, age matched, sex-matched normal standards. Alternatively, a apparently increased size of the cranium.
HP:0003577	Congenital onset	A phenotypic abnormality that is present at birth.
HP:0000913	Posterior rib fusion	Complete or partial merging of the posterior part of adjacent ribs.
HP:0000252	Microcephaly	Head circumference below 2 standard deviations below the mean for age and gender.
HP:0000007	Autosomal recessive inheritance	A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
HP:0000431	Wide nasal bridge	Increased breadth of the nasal bridge (and with it, the nasal root).
HP:0000921	Missing ribs	A developmental anomaly with absence of one or more ribs.
HP:0001511	Intrauterine growth retardation	An abnormal restriction of fetal growth with fetal weight below the tenth percentile for gestational age.
HP:0003510	Severe short stature	A severe degree of short stature, more than -4 SD from the mean corrected for age and sex.
HP:0003521	Disproportionate short-trunk short stature	A type of disproportionate short stature characterized by a short trunk but a average-sized limbs.
HP:0003316	Butterfly vertebrae	A butterfly vertebra (sagittal cleft vertebra or anterior rachischisis) is a sagittal defect in the vertebral body caused by failure of fusion of the two lateral chondrification centers during embryogenesis. The name is based on the appearance of the two hemivertebrae emerging as butterfly wings from the central cleft on x-ray.
HP:0000470	Short neck	Diminished length of the neck.
HP:0002948	Vertebral fusion	A developmental defect leading to the union of two adjacent vertebrae.
HP:0002937	Hemivertebrae	Absence of one half of the vertebral body.
HP:0003307	Hyperlordosis	Abnormally increased curvature (anterior concavity) of the lumbar or cervical spine.
HP:0000463	Anteverted nares	Anteriorly-facing nostrils viewed with the head in the Frankfurt horizontal and the eyes of the observer level with the eyes of the subject. This gives the appearance of an upturned nose (upturned nasal tip).
HP:0000006	Autosomal dominant inheritance	A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
HP:0000008	Abnormal morphology of female internal genitalia	An abnormality of the female internal genitalia.
HP:0002650	Scoliosis	The presence of an abnormal lateral curvature of the spine.
HP:0005107	Abnormal sacrum morphology	An abnormality of the sacral bone.
HP:0000582	Upslanted palpebral fissure	The palpebral fissure inclination is more than two standard deviations above the mean for age (objective); or, the inclination of the palpebral fissure is greater than typical for age.
HP:0030680	Abnormal cardiovascular system morphology	Any structural anomaly of the heart and great vessels.
HP:0003396	Syringomyelia	Dilated, glial-lined cavity in spinal cord. This cavity does not communicate with the central canal, and usually is between the dorsal columns unilaterally or bilaterally along the side of the cord.
HP:0003419	Low back pain	An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the lower back.
HP:0000768	Pectus carinatum	A deformity of the chest caused by overgrowth of the ribs and characterized by protrusion of the sternum.
HP:0000772	Abnormal rib morphology	An anomaly of the rib.

LAT NM_001014987.2 Whole gene - Size : 5,958 bases

pLI : 0.02 LOEUF : 0.67 sHet : 0.042 pHaplo : 0.17 pTriplo : 0.43
Location : 28,996,147 - 29,002,105

Disease : Severe combined immunodeficiency due to LAT deficiency

Source : Orphanet

Database :

DecipherGenomics PanelApp OMIM:602354 Orphanet:504523 HGNC:18874 PMID:27522155 GTEx Portal Human Protein Atlas Ensembl

Human Phenotype Ontology Show/Hide

HP:0011968	Feeding difficulties	Impaired ability to eat related to problems gathering food and getting ready to suck, chew, or swallow it.
HP:0002395	Lower limb hyperreflexia
HP:0025335	Delayed ability to stand	A failure to achieve the ability to stand up at an appropriate developmental stage. Most children begin to walk alone at 11 to 15 months of age. On average, children can stand while holding on at the age of 9 to 10 months, can pull up to stand and walk with one hand being held at 12 months, and can stand alone and walk well at 18 months.
HP:0031936	Delayed ability to walk	A failure to achieve the ability to walk at an appropriate developmental stage. Most children learn to walk in a series of stages, and learn to walk short distances independently between 12 and 15 months.
HP:0025331	Upgaze palsy	A limitation of the ability to direct one's gaze above the horizontal meridian.
HP:0002454	Eye of the tiger anomaly of globus pallidus	The presence, on T2-weighted magnetic resonance imaging, of markedly low signal intensity of the globus pallidus that surrounds a central region of high signal intensity in the anteromedial globus pallidus, producing an eye-of-the-tiger appearance. The sign is thought to represent iron accumulation in the globus pallidus.
HP:0000739	Anxiety	Intense feelings of nervousness, tension, or panic often arise in response to interpersonal stresses. There is worry about the negative effects of past unpleasant experiences and future negative possibilities. Individuals may feel fearful, apprehensive, or threatened by uncertainty, and they may also have fears of falling apart or losing control.
HP:0007994	Peripheral visual field loss	Loss of peripheral vision with retention of central vision, resulting in a constricted circular tunnel-like field of vision.
HP:0000657	Oculomotor apraxia	Ocular motor apraxia is a deficiency in voluntary, horizontal, lateral, fast eye movements (saccades) with retention of slow pursuit movements. The inability to follow objects visually is often compensated by head movements. There may be decreased smooth pursuit, and cancellation of the vestibulo-ocular reflex.
HP:0001288	Gait disturbance	The term gait disturbance can refer to any disruption of the ability to walk. In general, this can refer to neurological diseases but also fractures or other sources of pain that is triggered upon walking. However, in the current context gait disturbance refers to difficulty walking on the basis of a neurological or muscular disease.
HP:0000708	Atypical behavior	Atypical behavior is an abnormality in a person's actions, which can be controlled or modulated by the will of the individual. While abnormal behaviors can be difficult to control, they are distinct from other abnormal actions that cannot be affected by the individual's will.
HP:0005656	Positional foot deformity	A foot deformity resulting due to an abnormality affecting the muscle and soft tissue. In contrast if the bones of the foot are affected the term structural foot deformity applies.
HP:0020045	Esodeviation	A manifest or latent ocular deviation in which one or both eyes tends to deviate nasally.
HP:0001348	Brisk reflexes	Tendon reflexes that are noticeably more active than usual (conventionally denoted 3+ on clinical examination). Brisk reflexes may or may not indicate a neurological lesion. They are distinguished from hyperreflexia by the fact that hyerreflexia is characterized by hyperactive repeating (clonic) reflexes, which are considered to be always abnormal.
HP:0002928	Decreased activity of the pyruvate dehydrogenase complex
HP:0000508	Ptosis	The upper eyelid margin is positioned 3 mm or more lower than usual and covers the superior portion of the iris (objective); or, the upper lid margin obscures at least part of the pupil (subjective).
HP:0002136	Broad-based gait	An abnormal gait pattern in which persons stand and walk with their feet spaced widely apart. This is often a component of cerebellar ataxia.
HP:0000252	Microcephaly	Head circumference below 2 standard deviations below the mean for age and gender.
HP:0000007	Autosomal recessive inheritance	A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
HP:0001266	Choreoathetosis	Involuntary movements characterized by both athetosis (inability to sustain muscles in a fixed position) and chorea (widespread jerky arrhythmic movements).
HP:0001319	Neonatal hypotonia	Muscular hypotonia (abnormally low muscle tone) manifesting in the neonatal period.
HP:0002194	Delayed gross motor development	A type of motor delay characterized by a delay in acquiring the ability to control the large muscles of the body for walking, running, sitting, and crawling.
HP:0012379	Abnormal circulating enzyme concentration or activity	Concentration or activity of an enzyme is above or below the limits of normal in the blood circulation.
HP:0003487	Babinski sign	Upturning of the big toe (and sometimes fanning of the other toes) in response to stimulation of the sole of the foot. If the Babinski sign is present it can indicate damage to the corticospinal tract.
HP:0002465	Poor speech
HP:0001251	Ataxia	Cerebellar ataxia refers to ataxia due to dysfunction of the cerebellum. This causes a variety of elementary neurological deficits including asynergy (lack of coordination between muscles, limbs and joints), dysmetria (lack of ability to judge distances that can lead to under- or overshoot in grasping movements), and dysdiadochokinesia (inability to perform rapid movements requiring antagonizing muscle groups to be switched on and off repeatedly).
HP:0031960	Arm dystonia	A type of dystonia (abnormally increased muscular tone causing fixed abnormal postures) that affects muscles of the arms.
HP:0500231	Abnormal CSF pyruvate family amino acid concentration	Any deviation from the normal concentration of pyruvate-family amino acids in the cerebrospinal fluid.
HP:0002307	Drooling	Habitual flow of saliva out of the mouth.
HP:0000639	Nystagmus	Rhythmic, involuntary oscillations of one or both eyes related to abnormality in fixation, conjugate gaze, or vestibular mechanisms.
HP:0000707	Abnormality of the nervous system	An abnormality of the nervous system.
HP:0012043	Pendular nystagmus	Rhythmic, involuntary sinusoidal oscillations of one or both eyes. The waveform of pendular nystagmus may occur in any direction.
HP:0003128	Lactic acidosis	An abnormal buildup of lactic acid in the body, leading to acidification of the blood and other bodily fluids.
HP:0002180	Neurodegeneration	Progressive loss of neural cells and tissue.
HP:0001252	Hypotonia	Hypotonia is an abnormally low muscle tone (the amount of tension or resistance to movement in a muscle). Even when relaxed, muscles have a continuous and passive partial contraction which provides some resistance to passive stretching. Hypotonia thus manifests as diminished resistance to passive stretching. Hypotonia is not the same as muscle weakness, although the two conditions can co-exist.
HP:0100503	Low levels of vitamin B1	A reduced concentration of vitamin B1.
HP:0010864	Intellectual disability, severe	Severe mental retardation is defined as an intelligence quotient (IQ) in the range of 20-34.
HP:0000726	Dementia	A loss of global cognitive ability of sufficient amount to interfere with normal social or occupational function. Dementia represents a loss of previously present cognitive abilities, generally in adults, and can affect memory, thinking, language, judgment, and behavior.
HP:0003593	Infantile onset	Onset of signs or symptoms of disease between 28 days to one year of life.
HP:0001270	Motor delay	A type of Developmental delay characterized by a delay in acquiring motor skills.
HP:0001260	Dysarthria	Dysarthric speech is a general description referring to a neurological speech disorder characterized by poor articulation. Depending on the involved neurological structures, dysarthria may be further classified as spastic, flaccid, ataxic, hyperkinetic and hypokinetic, or mixed.
HP:0002355	Difficulty walking	Reduced ability to walk (ambulate).
HP:0002268	Paroxysmal dystonia	A form of dystonia characterized by episodes of dystonia (often hemidystonia or generalized) lasting from minutes to hours. There are no dystonic symptoms between episodes.
HP:0001263	Global developmental delay	A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. This term should only be used to describe children younger than five years of age.
HP:0011098	Speech apraxia	A type of apraxia that is characterized by difficulty or inability to execute speech movements because of problems with coordination and motor problems, leading to incorrect articulation. An increase of errors with increasing word and phrase length may occur.
HP:0000496	Abnormality of eye movement	An abnormality in voluntary or involuntary eye movements or their control.
HP:0032988	Persistent head lag	The Premie-Neuro and the Dubowitz Neurological Examination score head lag in the same manner. Scoring for both is as follows: 0 = head drops and stays back, 1 = tries to lift head but drops it back, 2 = able to lift head slightly, 3 = lifts head in line with body, and 4 = head in front of body. This term applies if head lag persists beyond an expected age at a level of 0 or 1. Persistent head lag beyond age 4 mo has been linked to poor outcomes.
HP:0000486	Strabismus	A misalignment of the eyes so that the visual axes deviate from bifoveal fixation. The classification of strabismus may be based on a number of features including the relative position of the eyes, whether the deviation is latent or manifest, intermittent or constant, concomitant or otherwise and according to the age of onset and the relevance of any associated refractive error.
HP:0004302	Functional motor deficit
HP:0007325	Generalized dystonia	A type of dystonia that affects all or most of the body.
HP:0000546	Retinal degeneration	A nonspecific term denoting degeneration of the retinal pigment epithelium and/or retinal photoreceptor cells.
HP:0001332	Dystonia	An abnormally increased muscular tone that causes fixed abnormal postures. There is a slow, intermittent twisting motion that leads to exaggerated turning and posture of the extremities and trunk.
HP:0006961	Jerky head movements
HP:0001256	Intellectual disability, mild	Mild intellectual disability is defined as an intelligence quotient (IQ) in the range of 50-69.
HP:0001276	Hypertonia	A condition in which there is increased muscle tone so that arms or legs, for example, are stiff and difficult to move.
HP:0031139	Frog-leg posture	A type of rest posture in an infant that indicated a generalized reduction in muscle tone. The hips are flexed and the legs are abducted to an extent that causes the lateral thigh to rest upon the supporting surface. This posture is said to resemble the legs of a frog.
HP:0001347	Hyperreflexia	Hyperreflexia is the presence of hyperactive stretch reflexes of the muscles.

PRR14 NM_024031.5 Whole gene - Size : 5,696 bases

pLI : 0.17 LOEUF : 0.47 sHet : 0.067 pHaplo : 0.19 pTriplo : 0.73
Location : 30,662,038 - 30,667,734

Database :

DecipherGenomics OMIM:617423 GTEx Portal Human Protein Atlas Ensembl

VKORC1 NM_024006.6 Whole gene - Size : 5,138 bases

pLI : 0.16 LOEUF : 1.02 sHet : 0.012 pHaplo : 0.12 pTriplo : 0.74
Location : 31,102,163 - 31,107,301

Disease : Hereditary combined deficiency of vitamin K-dependent clotting factors

Source : Orphanet

Database :

DecipherGenomics PanelApp OMIM:608547 Orphanet:98434 HGNC:23663 PMID:14765194 GTEx Portal Human Protein Atlas Ensembl

Human Phenotype Ontology Show/Hide

HP:0001871	Abnormality of blood and blood-forming tissues	An abnormality of the hematopoietic system.
HP:0011858	Reduced factor IX activity	Decreased activity of coagulation factor IX. Factor IX, which itself is activated by factor Xa or factor VIIa to form factor IXa, activates factor X into factor Xa.
HP:0040250	Reduced prothrombin antigen	Reduced prothrombin antigen as measured by ELISA assay. Prothrombin is a vitamin K-dependent coagulation factor that is proteolytically cleaved to form thrombin.
HP:0000007	Autosomal recessive inheritance	A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
HP:0000006	Autosomal dominant inheritance	A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
HP:0008321	Reduced factor X activity	Reduced activity of coagulation factor X. The extrinsic and intrinsic pathways converge at factor X (fX). The extrinsic pathway activates fX by means of d factor VII with its cofactor, tissue factor. The intrinsic pathway activates fX by means of the tenase complex (Ca2+ and factors VIIIa, IXa and X) on the surface of activated platelets. Factor Xa in turn activates prothrombin (factor II) to thrombin (factor IIa).
HP:0001892	Abnormal bleeding	An abnormal susceptibility to bleeding, often referred to as a bleeding diathesis. A bleeding diathesis may be related to vascular, platelet and coagulation defects.
HP:0008169	Reduced factor VII activity	Reduced activity of coagulation factor VII. Factor VII is part of the extrinsic coagulation pathway, which is initiated at the site of injury in response to the release of tissue factor (fIII). Tissue factor and activated factor VII catalyze the activation of factor X.

SULT1A2 NM_001054.4 Whole gene - Size : 5,107 bases

pLI : 0 LOEUF : 1.58 sHet : 0.006 pHaplo : 0.16 pTriplo : 0.32
Location : 28,603,264 - 28,608,371

Database :

DecipherGenomics OMIM:601292 GTEx Portal Human Protein Atlas Ensembl

SULT1A3 NM_177552.4 Whole gene - Size : 5,082 bases

pLI : 0.36 LOEUF : 1.79 pHaplo : 0.14 pTriplo : 0.53
Location : 30,210,549 - 30,215,631

Database :

DecipherGenomics OMIM:600641 GTEx Portal Human Protein Atlas Ensembl

MAZ NM_002383.4 Whole gene - Size : 5,058 bases

pLI : 0.93 LOEUF : 0.37 sHet : 0.16 pHaplo : 0.61 pTriplo : 0.84
Location : 29,817,427 - 29,822,485

Database :

DecipherGenomics OMIM:600999 GTEx Portal Human Protein Atlas Ensembl

CDIPT NM_006319.5 Whole gene - Size : 5,057 bases

pLI : 0.13 LOEUF : 0.79 sHet : 0.034 pHaplo : 0.04 pTriplo : 0.5
Location : 29,869,678 - 29,874,735

Database :

DecipherGenomics OMIM:605893 GTEx Portal Human Protein Atlas Ensembl

SULT1A4 NM_001017390.3 Whole gene - Size : 5,053 bases

pLI : 0.38 LOEUF : 1.74 pHaplo : 0.12 pTriplo : 0.59
Location : 29,471,234 - 29,476,287

Database :

DecipherGenomics OMIM:615819 GTEx Portal Human Protein Atlas Ensembl

CFAP119 NM_001014979.3 Whole gene - Size : 4,798 bases

pLI : 0 LOEUF : 1.18
Location : 30,768,744 - 30,773,542

Database :

DecipherGenomics OMIM:618318 GTEx Portal Human Protein Atlas Ensembl

ZG16 NM_152338.4 Whole gene - Size : 4,717 bases

pLI : 0.62 LOEUF : 0.65 pHaplo : 0.29 pTriplo : 0.59
Location : 29,789,577 - 29,794,294

Database :

DecipherGenomics OMIM:617311 GTEx Portal Human Protein Atlas Ensembl

ZNF764 NM_001172679.2 Whole gene - Size : 4,610 bases

pLI : 0 LOEUF : 1.17 pHaplo : 0.1 pTriplo : 0.64
Location : 30,565,085 - 30,569,695

Database :

DecipherGenomics OMIM:619524 GTEx Portal Human Protein Atlas Ensembl

YPEL3 NM_031477.5 Whole gene - Size : 4,601 bases

pLI : 0.04 LOEUF : 1.15 sHet : 0.026 pHaplo : 0.14 pTriplo : 0.57
Location : 30,103,635 - 30,108,236

Database :

DecipherGenomics OMIM:609724 GTEx Portal Human Protein Atlas Ensembl

C16orf92 NM_001109659.2 Whole gene - Size : 4,538 bases

pLI : 0.03 LOEUF : 1.26 sHet : 0.013 pHaplo : 0.14 pTriplo : 0.2
Location : 30,034,519 - 30,039,057

Database :

DecipherGenomics OMIM:618911 GTEx Portal Human Protein Atlas Ensembl

CD2BP2 NM_006110.3 Whole gene - Size : 4,535 bases

pLI : 0 LOEUF : 1.04 sHet : 0.009 pHaplo : 0.09 pTriplo : 0.47
Location : 30,362,094 - 30,366,629

Database :

DecipherGenomics OMIM:604470 GTEx Portal Human Protein Atlas Ensembl

PRRT2 NM_145239.3 Whole gene - Size : 4,510 bases

pLI : 0.59 LOEUF : 0.56 sHet : 0.152 pHaplo : 0.39 pTriplo : 0.39
Location : 29,822,703 - 29,827,213

Disease : Paroxysmal exertion-induced dyskinesia

Source : Orphanet

Database :

DecipherGenomics PanelApp OMIM:614386 Orphanet:98811 HGNC:30500 PMID:22902309 PMID:22209761 PMID:23398397 GTEx Portal Human Protein Atlas Ensembl

Human Phenotype Ontology Show/Hide

HP:0012469	Infantile spasms	Infantile spasms represent a subset of "epileptic spasms". Infantile Spasms are epileptic spasms starting in the first year of life (infancy).
HP:0001304	Torsion dystonia	Sustained involuntary muscle contractions that produce twisting and repetitive movements of the body.
HP:0032044	Decreased vigilance	A decrease in the ability to maintain sustained attention is characterized by reduced alertness.
HP:0002321	Vertigo	An abnormal sensation of spinning while the body is actually stationary.
HP:0003621	Juvenile onset	Onset of signs or symptoms of disease between the age of 5 and 15 years.
HP:0011468	Facial tics	Sudden, repetitive, nonrhythmic motor movements (spasms), involving the eyes and muscles of the face.
HP:0002181	Cerebral edema	Abnormal accumulation of fluid in the brain.
HP:0007166	Paroxysmal dyskinesia	Episodic bouts of involuntary movements with dystonic, choreic, ballistic movements, or a combination thereof. There is no loss of consciousness during the attacks.
HP:0002133	Status epilepticus	Status epilepticus is a type of prolonged seizure resulting either from the failure of the mechanisms responsible for seizure termination or from the initiation of mechanisms which lead to abnormally prolonged seizures (after time point t1). It is a condition that can have long-term consequences (after time point t2), including neuronal death, neuronal injury, and alteration of neuronal networks, depending on the type and duration of seizures.
HP:0008959	Distal upper limb muscle weakness	Reduced strength of the distal musculature of the arms.
HP:0011169	Generalized clonic seizure	Generalized clonic seizure is a type of generalized motor seizure characterised by sustained bilateral jerking, either symmetric or asymmetric, that is regularly repetitive and involves the same muscle groups.
HP:0001308	Tongue fasciculations	Fasciculations or fibrillation affecting the tongue muscle.
HP:0000006	Autosomal dominant inheritance	A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
HP:0002381	Aphasia	An acquired language impairment of some or all of the abilities to produce or comprehend speech and to read or write.
HP:0011171	Simple febrile seizure	A short generalized seizure, of a duration of <15 min, not recurring within 24 h, occurring during a febrile episode not caused by an acute disease of the nervous system intracranial infection or severe metabolic disturbance.
HP:0010835	Dissociated sensory loss	A pattern of sensory loss with selective loss of touch sensation and proprioception without loss of pain and temperature, or vice-versa.
HP:0002353	EEG abnormality	Abnormality observed by electroencephalogram (EEG), which is used to record of the brain's spontaneous electrical activity from multiple electrodes placed on the scalp.
HP:0025708	Early young adult onset	Onset of disease at an age of greater than or equal to 16 to under 19 years.
HP:0012229	CSF pleocytosis	An increased white blood cell count in the cerebrospinal fluid.
HP:0001289	Confusion	Lack of clarity and coherence of thought, perception, understanding, or action.
HP:0002197	Generalized-onset seizure	A generalized-onset seizure is a type of seizure originating at some point within, and rapidly engaging, bilaterally distributed networks. The networks may include cortical and subcortical structures but not necessarily the entire cortex.
HP:0000718	Aggressive behavior	Behavior or an act aimed at harming a person, animal, or physical property (e.g., acts of physical violence; shouting, swearing, and using harsh language; slashing someone's tires).
HP:0001260	Dysarthria	Dysarthric speech is a general description referring to a neurological speech disorder characterized by poor articulation. Depending on the involved neurological structures, dysarthria may be further classified as spastic, flaccid, ataxic, hyperkinetic and hypokinetic, or mixed.
HP:0007240	Progressive gait ataxia	A type of gait ataxia displaying progression of clinical severity.
HP:0012508	Metamorphopsia	A visual anomaly in which images appear distorted. A grid of straight lines appears wavy and parts of the grid may appear blank.
HP:0002372	Normal interictal EEG	Lack of observable abnormal electroencephalographic (EEG) patterns in an individual with a history of seizures. About half of individuals with epilepsy show interictal epileptiform discharges upon the first investigation. The yield can be increased by repeated studies, sleep studies, or by ambulatory EEG recordings over 24 hours. Normal interictal EEG is a sign that can be useful in the differential diagnosis.
HP:0030786	Photopsia	Perceived flashes of light.
HP:0011153	Focal motor seizure	A type of focal-onset seizure characterized by a motor sign as its initial semiological manifestation.
HP:0011196	EEG with focal sharp waves	EEG with focal sharp transient waves of a duration between 80 and 200 msec.
HP:0002268	Paroxysmal dystonia	A form of dystonia characterized by episodes of dystonia (often hemidystonia or generalized) lasting from minutes to hours. There are no dystonic symptoms between episodes.
HP:0003401	Paresthesia	Abnormal sensations such as tingling, pricking, or numbness of the skin with no apparent physical cause.
HP:0000651	Diplopia	Diplopia is a condition in which a single object is perceived as two images, it is also known as double vision.
HP:0025401	Staring gaze	An abnormality in which the eyes are held permanently wide open.
HP:0002384	Focal impaired awareness seizure	Focal impaired awareness seizure (or focal seizure with impaired or lost awareness) is a type of focal-onset seizure characterized by some degree (which may be partial) of impairment of the person's awareness of themselves or their surroundings at any point during the seizure.
HP:0012044	Seesaw nystagmus	Seesaw nystagmus is a type of pendular nystagmus where a half cycle consists of the elevation and intorsion of one eye, concurrently with the depression and extortion of the fellow eye. In the other half cycle, there is an inversion of the ocular movements.
HP:0002361	Psychomotor deterioration	Loss of previously present mental and motor abilities.
HP:0011182	Interictal epileptiform activity	Epileptiform activity refers to distinctive EEG waves or complexes distinguished from background activity found in in a proportion of human subjects with epilepsy, but which can also be found in subjects without seizures. Interictal epileptiform activity refers to such activity that occurs in the absence of a clinical or subclinical seizure.
HP:0002266	Focal clonic seizure	A focal clonic seizure is a type of focal motor seizure characterized by sustained rhythmic jerking, that is regularly repetitive.
HP:0032506	Alien limb phenomenon	Alien limb phenomenon refers to involuntary motor activity of a limb in conjunction with the feeling of estrangement from that limb.
HP:0001324	Muscle weakness	Reduced strength of muscles.
HP:0003392	First dorsal interossei muscle weakness
HP:0010833	Spontaneous pain sensation	Spontaneous pain is a kind of neuropathic pain which occurs without an identifiable trigger.
HP:0000360	Tinnitus	Tinnitus is an auditory perception that can be described as the experience of sound, in the ear or in the head, in the absence of external acoustic stimulation.
HP:0010544	Vertical nystagmus	Vertical nystagmus may present with either up-beating or down-beating eye movements or both. When present in the straight-ahead position of gaze it is referred to as upbeat nystagmus or downbeat nystagmus.
HP:0002076	Migraine	Migraine is a chronic neurological disorder characterized by episodic attacks of headache and associated symptoms.
HP:0010829	Impaired temperature sensation	A reduced ability to discriminate between different temperatures.
HP:0001276	Hypertonia	A condition in which there is increased muscle tone so that arms or legs, for example, are stiff and difficult to move.
HP:0003829	Typified by incomplete penetrance	Description of conditions in which not all individuals with a given genotype exhibit the disease. Penetrance is the proportion that develop disease given a lifespan of 80 years.
HP:0045084	Limb myoclonus
HP:0011167	Focal tonic seizure	A type of focal motor seizure characterized by sustained increase in muscle contraction, lasting a few seconds to minutes.
HP:0001250	Seizure	A seizure is an intermittent abnormality of nervous system physiology characterised by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain.
HP:0001259	Coma	The complete absence of wakefulness and consciousness, which is evident through a lack of response to any form of external stimuli.
HP:0002922	Increased CSF protein concentration	Increased concentration of protein in the cerebrospinal fluid.
HP:0002356	Writer's cramp	A focal dystonia of the fingers, hand, and/or forearm that appears when the affected person attempts to do a task that requires fine motor movements such as writing or playing a musical instrument.
HP:0002061	Lower limb spasticity	Spasticity (velocity-dependent increase in tonic stretch reflexes with increased muscle tone and hyperexcitable tendon reflexes) in the muscles of the lower limbs, hips, and pelvis
HP:0004305	Involuntary movements	Involuntary contractions of muscle leading to involuntary movements of extremities, neck, trunk, or face.
HP:0002310	Orofacial dyskinesia
HP:0100576	Amaurosis fugax	A transient visual disturbance that is typically caused by a circulatory, ocular or neurological underlying condition.
HP:0002072	Chorea	Chorea (Greek for 'dance') refers to widespread arrhythmic involuntary movements of a forcible, jerky and restless fashion. It is a random-appearing sequence of one or more discrete involuntary movements or movement fragments. Movements appear random because of variability in timing, duration or location. Each movement may have a distinct start and end. However, movements may be strung together and thus may appear to flow randomly from one muscle group to another. Chorea can involve the trunk, neck, face, tongue, and extremities.
HP:0002094	Dyspnea	Difficult or labored breathing. Dyspnea is a subjective feeling only the patient can rate, e.g., on a Borg scale.
HP:0007979	Gaze-evoked horizontal nystagmus	Horizontal nystagmus made apparent by looking to the right or to the left.
HP:0000365	Hearing impairment	A decreased magnitude of the sensory perception of sound.
HP:0001266	Choreoathetosis	Involuntary movements characterized by both athetosis (inability to sustain muscles in a fixed position) and chorea (widespread jerky arrhythmic movements).
HP:0012759	Neurodevelopmental abnormality	A deviation from normal of the neurological development of a child, which may include any or all of the aspects of the development of personal, social, gross or fine motor, and cognitive abilities.
HP:0000961	Cyanosis	Bluish discoloration of the skin and mucosa due to poor circulation or inadequate oxygenation of arterial or capillary blood.
HP:0000473	Torticollis	Involuntary contractions of the neck musculature resulting in an abnormal posture of or abnormal movements of the head.
HP:0001251	Ataxia	Cerebellar ataxia refers to ataxia due to dysfunction of the cerebellum. This causes a variety of elementary neurological deficits including asynergy (lack of coordination between muscles, limbs and joints), dysmetria (lack of ability to judge distances that can lead to under- or overshoot in grasping movements), and dysdiadochokinesia (inability to perform rapid movements requiring antagonizing muscle groups to be switched on and off repeatedly).
HP:0001387	Joint stiffness	Joint stiffness is a perceived sensation of tightness in a joint or joints when attempting to move them after a period of inactivity. Joint stiffness typically subsides over time.
HP:0001272	Cerebellar atrophy	Cerebellar atrophy is defined as a cerebellum with initially normal structures, in a posterior fossa with normal size, which displays enlarged fissures (interfolial spaces) in comparison to the foliae secondary to loss of tissue. Cerebellar atrophy implies irreversible loss of tissue and result from an ongoing progressive disease until a final stage is reached or a single injury, e.g. an intoxication or infectious event.
HP:0002172	Postural instability	A tendency to fall or the inability to keep oneself from falling; imbalance. The retropulsion test is widely regarded as the gold standard to evaluate postural instability, Use of the retropulsion test includes a rapid balance perturbation in the backward direction, and the number of balance correcting steps (or total absence thereof) is used to rate the degree of postural instability. Healthy subjects correct such perturbations with either one or two large steps, or without taking any steps, hinging rapidly at the hips while swinging the arms forward as a counterweight. In patients with balance impairment, balance correcting steps are often too small, forcing patients to take more than two steps. Taking three or more steps is generally considered to be abnormal, and taking more than five steps is regarded as being clearly abnormal. Markedly affected patients continue to step backward without ever regaining their balance and must be caught by the examiner (this would be called true retropulsion). Even more severely affected patients fail to correct entirely, and fall backward like a pushed toy soldier, without taking any corrective steps.
HP:0002077	Migraine with aura	A type of migraine in which there is an aura characterized by focal neurological phenomena that usually proceed, but may accompany or occur in the absence of, the headache. The symptoms of an aura may include fully reversible visual, sensory, and speech symptoms but not motor weakness. Visual symptoms may include flickering lights, spots and lines and/or loss of vision and/or unilateral sensory symptoms such as paresthesias or numbness. At least one of the symptoms of an aura develops gradually over 5 or more minutes and/or different symptoms occur in succession.
HP:0001249	Intellectual disability	Intellectual disability, previously referred to as mental retardation, is characterized by subnormal intellectual functioning that occurs during the developmental period. It is defined by an IQ score below 70.
HP:0410263	Brain imaging abnormality	An anomaly of metabolism or structure of the brain identified by imaging.
HP:0001328	Specific learning disability	Impairment of certain skills such as reading or writing, coordination, self-control, or attention that interfere with the ability to learn. The impairment is not related to a global deficiency of intelligence.
HP:0100660	Dyskinesia	A movement disorder which consists of effects including diminished voluntary movements and the presence of involuntary movements.
HP:0007209	Facial paralysis	Complete loss of ability to move facial muscles innervated by the facial nerve (i.e., the seventh cranial nerve).
HP:0003593	Infantile onset	Onset of signs or symptoms of disease between 28 days to one year of life.
HP:0002104	Apnea	Lack of breathing with no movement of the respiratory muscles and no exchange of air in the lungs. This term refers to a disposition to have recurrent episodes of apnea rather than to a single event.
HP:0007359	Focal-onset seizure	A focal-onset seizure is a type of seizure originating within networks limited to one hemisphere. They may be discretely localized or more widely distributed, and may originate in subcortical structures.
HP:0011157	Focal sensory seizure	A focal sensory seizure is a type seizure beginning with a subjective sensation.
HP:0007334	Bilateral tonic-clonic seizure with focal onset	A bilateral tonic-clonic seizure with focal onset is a focal-onset seizure which progresses into a bilateral tonic-clonic phase.
HP:0006801	Hyperactive deep tendon reflexes
HP:0002305	Athetosis	A slow, continuous, involuntary writhing movement that prevents maintenance of a stable posture. Athetosis involves continuous smooth movements that appear random and are not composed of recognizable sub-movements or movement fragments. In contrast to chorea, in athetosis, the same regions of the body are repeatedly involved. Athetosis may worsen with attempts at movement of posture, but athetosis can also occur at rest.
HP:0011172	Complex febrile seizure	A febrile seizure that has any of the following features: focal semiology (or associated with post-ictal neurologic abnormalities beyond drowsiness, such as a Todd's paresis), prolonged seizure beyond 15 minutes, or recurring (occurring more than once) in a 24 hour period.
HP:0000575	Scotoma	A regional and pathological increase of the light detection threshold in any region of the visual field surrounded by a field of normal or relatively well-preserved vision.
HP:0002301	Hemiplegia	Paralysis (complete loss of muscle function) in the arm, leg, and in some cases the face on one side of the body.
HP:0002487	Hyperkinetic movements	Motor hyperactivity with excessive movement of muscles of the body as a whole.
HP:0200149	CSF lymphocytic pleiocytosis	An increased lymphocyte count in the cerebrospinal fluid.
HP:0003324	Generalized muscle weakness	Generalized weakness or decreased strength of the muscles, affecting both distal and proximal musculature.
HP:0002121	Generalized non-motor (absence) seizure	A generalized non-motor (absence) seizure is a type of a type of dialeptic seizure that is of electrographically generalized onset. It is a generalized seizure characterised by an interruption of activities, a blank stare, and usually the person will be unresponsive when spoken to. Any ictal motor phenomena are minor in comparison to these non-motor features.
HP:0031179	Nuchal rigidity	Resistance of the extensor muscles of the neck to being bent forwards (i.e., impaired neck flexion) as a result of muscle spasm of the extensor muscles of the neck. Nuchal rigidity is not a fixed rigidity. Nuchal rigidity has been used as a bedside test for meningism, although its sensitivity for this purpose has been debated.
HP:0010818	Generalized tonic seizure	A generalized tonic seizure is a type of generalized motor seizure characterised by bilateral limb stiffening or elevation, often with neck stiffening without a subsequent clonic phase. The tonic activity can be a sustained abnormal posture, either in extension or flexion, sometimes accompanied by tremor of the extremities.
HP:0001269	Hemiparesis	Loss of strength in the arm, leg, and sometimes face on one side of the body. Hemiplegia refers to a complete loss of strength, whereas hemiparesis refers to an incomplete loss of strength.
HP:0012002	Experiential epileptic aura	Affective, mnemonic or composite perceptual auras with subjective qualities similar to those experienced in life but are recognized by the subject as occurring outside of actual context.
HP:0002069	Bilateral tonic-clonic seizure	A bilateral tonic-clonic seizure is a seizure defined by a tonic (bilateral increased tone, lasting seconds to minutes) and then a clonic (bilateral sustained rhythmic jerking) phase.
HP:0007098	Paroxysmal choreoathetosis	Episodes of choreoathetosis that can occur following triggers such as quick voluntary movements.
HP:0002063	Rigidity	Continuous involuntary sustained muscle contraction. When an affected muscle is passively stretched, the degree of resistance remains constant regardless of the rate at which the muscle is stretched. This feature helps to distinguish rigidity from muscle spasticity.
HP:0000211	Trismus	Limitation in the ability to open the mouth.
HP:0002167	Abnormality of speech or vocalization	Abnormalities in the sound of a person's speech or vocalization are not necessarily associated with a known physical cause or due to stuttering or stammering.
HP:0011199	EEG with generalized sharp slow waves	EEG with generalized sharp transient waves of a duration between 80 and 200 msec followed by a slow wave.
HP:0001332	Dystonia	An abnormally increased muscular tone that causes fixed abnormal postures. There is a slow, intermittent twisting motion that leads to exaggerated turning and posture of the extremities and trunk.
HP:0001256	Intellectual disability, mild	Mild intellectual disability is defined as an intelligence quotient (IQ) in the range of 50-69.
HP:0000737	Irritability	A proneness to anger, i.e., a tendency to become easily bothered or annoyed.

APOBR NM_018690.4 Whole gene - Size : 4,321 bases

pLI : 0 LOEUF : 0.77 sHet : 0.049 pHaplo : 0.24 pTriplo : 0.23
Location : 28,505,964 - 28,510,285

Database :

DecipherGenomics OMIM:605220 GTEx Portal Human Protein Atlas Ensembl

PRSS8 NM_002773.5 Whole gene - Size : 4,294 bases

pLI : 0.1 LOEUF : 0.69 sHet : 0.042 pHaplo : 0.39 pTriplo : 0.45
Location : 31,142,754 - 31,147,048

Database :

DecipherGenomics OMIM:600823 GTEx Portal Human Protein Atlas Ensembl

HSD3B7 NM_025193.4 Whole gene - Size : 3,940 bases

pLI : 0 LOEUF : 1.33 sHet : 0.006 pHaplo : 0.17 pTriplo : 0.67
Location : 30,996,528 - 31,000,468

Disease : Congenital bile acid synthesis defect type 1

Source : Orphanet

Database :

DecipherGenomics PanelApp OMIM:607764 Orphanet:79301 HGNC:18324 PMID:12679481 GTEx Portal Human Protein Atlas Ensembl

Human Phenotype Ontology Show/Hide

HP:0000952	Jaundice	Yellow pigmentation of the skin due to bilirubin, which in turn is the result of increased bilirubin concentration in the bloodstream.
HP:0003623	Neonatal onset	Onset of signs or symptoms of disease within the first 28 days of life.
HP:0002014	Diarrhea	Abnormally increased frequency (usually defined as three or more) loose or watery bowel movements a day.
HP:0009830	Peripheral neuropathy	Peripheral neuropathy is a general term for any disorder of the peripheral nervous system. The main clinical features used to classify peripheral neuropathy are distribution, type (mainly demyelinating versus mainly axonal), duration, and course.
HP:0002910	Elevated hepatic transaminase	Elevations of the levels of SGOT and SGPT in the serum. SGOT (serum glutamic oxaloacetic transaminase) and SGPT (serum glutamic pyruvic transaminase) are transaminases primarily found in the liver and heart and are released into the bloodstream as the result of liver or heart damage. SGOT and SGPT are used clinically mainly as markers of liver damage.
HP:0000007	Autosomal recessive inheritance	A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
HP:0003256	Abnormality of the coagulation cascade	An abnormality of the coagulation cascade, which is comprised of the contact activation pathway (also known as the intrinsic pathway) and the tissue factor pathway (also known as the extrinsic pathway) as well as cofactors and regulators.
HP:0001508	Failure to thrive	Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm.
HP:0006566	Neonatal cholestatic liver disease
HP:0000939	Osteoporosis	Osteoporosis is a systemic skeletal disease characterized by low bone density and microarchitectural deterioration of bone tissue with a consequent increase in bone fragility. According to the WHO criteria, osteoporosis is defined as a BMD that lies 2.5 standard deviations or more below the average value for young healthy adults (a T-score below -2.5 SD).
HP:0001394	Cirrhosis	A chronic disorder of the liver in which liver tissue becomes scarred and is partially replaced by regenerative nodules and fibrotic tissue resulting in loss of liver function.
HP:0002240	Hepatomegaly	Abnormally increased size of the liver.
HP:0002570	Steatorrhea	Greater than normal amounts of fat in the feces. This is a result of malabsorption of lipids in the small intestine and results in frothy foul-smelling fecal matter that floats.
HP:0003146	Hypocholesterolemia	An decreased concentration of cholesterol in the blood.
HP:0000989	Pruritus	Pruritus is an itch or a sensation that makes a person want to scratch. This term refers to an abnormally increased disposition to experience pruritus.
HP:0002748	Rickets	Rickets is divided into two major categories including calcipenic and phosphopenic. Hypophosphatemia is described as a common manifestation of both categories. Hypophosphatemic rickets is the most common type of rickets that is characterized by low levels of serum phosphate, resistance to ultraviolet radiation or vitamin D intake. There are several issues involved in hypophosphatemic rickets such as calcium, vitamin D, phosphorus deficiencies. Moreover, other disorder can be associated with its occurrence such as absorption defects due to pancreatic, intestinal, gastric, and renal disorders and hepatobiliary disease. Symptoms are usually seen in childhood and can be varied in severity. Severe forms may be linked to bowing of the legs, poor bone growth, and short stature as well as joint and bone pain. Hypophosphatemic rickets are associated with renal excretion of phosphate, hypophosphatemia, and mineral defects in bones. The familial type of the disease is the most common type of rickets.
HP:0001080	Biliary tract abnormality	An abnormality of the biliary tree.
HP:0001399	Hepatic failure
HP:0002630	Fat malabsorption	Abnormality of the absorption of fat from the gastrointestinal tract.
HP:0001744	Splenomegaly	Abnormal increased size of the spleen.
HP:0000662	Nyctalopia	Inability to see well at night or in poor light.
HP:0002908	Conjugated hyperbilirubinemia
HP:0200084	Giant cell hepatitis	Chronic hepatitis characterized by parenchymal inflammation with formation of large multinucleated hepatocytes in response to a variety of insults to the liver.
HP:0002239	Gastrointestinal hemorrhage	Hemorrhage affecting the gastrointestinal tract.
HP:0001928	Abnormality of coagulation	An abnormality of the process of blood coagulation. That is, altered ability or inability of the blood to clot.
HP:0002024	Malabsorption	Impaired ability to absorb one or more nutrients from the intestine.
HP:0001892	Abnormal bleeding	An abnormal susceptibility to bleeding, often referred to as a bleeding diathesis. A bleeding diathesis may be related to vascular, platelet and coagulation defects.
HP:0001406	Intrahepatic cholestasis	Impairment of bile flow due to obstruction in the small bile ducts within the liver.
HP:0011985	Acholic stools	Clay colored stools lacking bile pigment.

TUFM NM_003321.5 Whole gene - Size : 3,937 bases

pLI : 0 LOEUF : 0.74 sHet : 0.022 pHaplo : 0.17 pTriplo : 0.89
Location : 28,853,732 - 28,857,669

Disease : Combined oxidative phosphorylation defect type 4

Source : Orphanet

Database :

DecipherGenomics PanelApp OMIM:602389 Orphanet:254925 HGNC:12420 PMID:17160893 GTEx Portal Human Protein Atlas Ensembl

Human Phenotype Ontology Show/Hide

HP:0003593	Infantile onset	Onset of signs or symptoms of disease between 28 days to one year of life.
HP:0002240	Hepatomegaly	Abnormally increased size of the liver.
HP:0001942	Metabolic acidosis	Metabolic acidosis (MA) is characterized by a fall in blood pH due to a reduction of serum bicarbonate concentration. This can occur as a result of either the accumulation of acids (high anion gap MA) or the loss of bicarbonate from the gastrointestinal tract or the kidney (hyperchloremic MA). By definition, MA is not due to a respirary cause.
HP:0002151	Increased serum lactate	Abnormally increased level of blood lactate (2-hydroxypropanoic acid). Lactate is produced from pyruvate by lactate dehydrogenase during normal metabolism. The terms lactate and lactic acid are often used interchangeably but lactate (the component measured in blood) is strictly a weak base whereas lactic acid is the corresponding acid. Lactic acidosis is often used clinically to describe elevated lactate but should be reserved for cases where there is a corresponding acidosis (pH below 7.35).
HP:0002415	Leukodystrophy	Leukodystrophy refers to deterioration of white matter of the brain resulting from degeneration of myelin sheaths in the CNS. Their basic defect is directly related to the synthesis and maintenance of myelin membranes. Symmetric white matter involvement at MRI is a typical finding in patients with leukodystrophies.
HP:0001298	Encephalopathy	Encephalopathy is a term that means brain disease, damage, or malfunction. In general, encephalopathy is manifested by an altered mental state.
HP:0000639	Nystagmus	Rhythmic, involuntary oscillations of one or both eyes related to abnormality in fixation, conjugate gaze, or vestibular mechanisms.
HP:0002179	Opisthotonus
HP:0001987	Hyperammonemia	An increased concentration of ammonia in the blood.
HP:0002376	Developmental regression	Loss of developmental skills, as manifested by loss of developmental milestones.
HP:0003128	Lactic acidosis	An abnormal buildup of lactic acid in the body, leading to acidification of the blood and other bodily fluids.
HP:0002126	Polymicrogyria	Polymicrogyria is a congenital malformation of the cerebral cortex characterized by abnormal cortical layering (lamination) and an excessive number of small gyri (folds).
HP:0001522	Death in infancy	Death within the first 24 months of life.
HP:0000252	Microcephaly	Head circumference below 2 standard deviations below the mean for age and gender.
HP:0000007	Autosomal recessive inheritance	A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
HP:0001319	Neonatal hypotonia	Muscular hypotonia (abnormally low muscle tone) manifesting in the neonatal period.
HP:0001511	Intrauterine growth retardation	An abnormal restriction of fetal growth with fetal weight below the tenth percentile for gestational age.
HP:0002878	Respiratory failure	A severe form of respiratory insufficiency characterized by inadequate gas exchange such that the levels of oxygen or carbon dioxide cannot be maintained within normal limits.
HP:0001257	Spasticity	A motor disorder characterized by a velocity-dependent increase in tonic stretch reflexes with increased muscle tone, exaggerated (hyperexcitable) tendon reflexes.

HIRIP3 NM_003609.5 Whole gene - Size : 3,744 bases

pLI : 0 LOEUF : 0.87 sHet : 0.094 pHaplo : 0.15 pTriplo : 0.66
Location : 30,003,651 - 30,007,395

Database :

DecipherGenomics OMIM:603365 GTEx Portal Human Protein Atlas Ensembl

SLX1B NM_024044.5 Whole gene - Size : 3,686 bases

pLI : 0.04 LOEUF : 1.72 pHaplo : 0.14 pTriplo : 0.81
Location : 29,465,854 - 29,469,540

Database :

DecipherGenomics OMIM:615823 GTEx Portal Human Protein Atlas Ensembl

SLX1A NM_001014999.3 Whole gene - Size : 3,686 bases

pLI : 0.12 LOEUF : 1.16 pHaplo : 0.13 pTriplo : 0.42
Location : 30,205,196 - 30,208,882

Database :

DecipherGenomics OMIM:615822 GTEx Portal Human Protein Atlas Ensembl

ZNF768 NM_024671.4 Whole gene - Size : 2,817 bases

pLI : 0.42 LOEUF : 0.5 sHet : 0.029 pHaplo : 0.14 pTriplo : 0.75
Location : 30,535,325 - 30,538,142

Database :

DecipherGenomics OMIM:618032 GTEx Portal Human Protein Atlas Ensembl

TP53TG3 NM_016212.5 Whole gene - Size : 2,637 bases

Location : 32,684,849 - 32,687,486

Database :

DecipherGenomics OMIM:617482 GTEx Portal Human Protein Atlas Ensembl

SEPHS2 NM_012248.4 Whole gene - Size : 2,243 bases

pLI : 0 LOEUF : 0.99 sHet : 0.012 pHaplo : 0.09 pTriplo : 0.77
Location : 30,454,952 - 30,457,195

Database :

DecipherGenomics OMIM:606218 GTEx Portal Human Protein Atlas Ensembl

PYCARD NM_013258.5 Whole gene - Size : 1,964 bases

pLI : 0 LOEUF : 1.9 sHet : 0.004 pHaplo : 0.17 pTriplo : 0.37
Location : 31,212,807 - 31,214,771

Database :

DecipherGenomics PanelApp OMIM:606838 GTEx Portal Human Protein Atlas Ensembl

PYDC1 NM_152901.4 Whole gene - Size : 1,173 bases

sHet : 0.067 pHaplo : 0.54 pTriplo : 0.43
Location : 31,227,283 - 31,228,456

Database :

DecipherGenomics OMIM:615700 GTEx Portal Human Protein Atlas Ensembl

AHSP NM_016633.4 Whole gene - Size : 903 bases

pLI : 0 LOEUF : 1.96 sHet : 0.007 pHaplo : 0.25 pTriplo : 0.13
Location : 31,539,221 - 31,540,124

Database :

DecipherGenomics OMIM:605821 GTEx Portal Human Protein Atlas Ensembl

BOLA2 NM_001031827.3 Whole gene - Size : 761 bases

pHaplo : 0.1 pTriplo : 0.41
Location : 29,464,911 - 29,465,672

Database :

DecipherGenomics PanelApp OMIM:613182 GTEx Portal Human Protein Atlas Ensembl

COX6A2 NM_005205.4 Whole gene - Size : 629 bases

pLI : 0.19 LOEUF : 1.58 pHaplo : 0.51 pTriplo : 0.64
Location : 31,439,052 - 31,439,681

Disease : Isolated cytochrome C oxidase deficiency

Source : Orphanet

Database :

DecipherGenomics PanelApp OMIM:602009 Orphanet:254905 HGNC:2279 PMID:31155743 GTEx Portal Human Protein Atlas Ensembl

Human Phenotype Ontology Show/Hide

HP:0003593	Infantile onset	Onset of signs or symptoms of disease between 28 days to one year of life.
HP:0003688	Cytochrome C oxidase-negative muscle fibers	An abnormally reduced activity of the enzyme cytochrome C oxidase in muscle tissue.
HP:0003542	Increased serum pyruvate	An increased concentration of pyruvate in the blood.
HP:0001290	Generalized hypotonia	Generalized muscular hypotonia (abnormally low muscle tone).
HP:0001324	Muscle weakness	Reduced strength of muscles.
HP:0002151	Increased serum lactate	Abnormally increased level of blood lactate (2-hydroxypropanoic acid). Lactate is produced from pyruvate by lactate dehydrogenase during normal metabolism. The terms lactate and lactic acid are often used interchangeably but lactate (the component measured in blood) is strictly a weak base whereas lactic acid is the corresponding acid. Lactic acidosis is often used clinically to describe elevated lactate but should be reserved for cases where there is a corresponding acidosis (pH below 7.35).
HP:0012240	Increased intramyocellular lipid droplets	An abnormal increase in intracellular lipid droplets In a muscle. The number and size of these drops can increase with somd disorders of lipid metabolism affecting muscle. See PMID 20691590 for histological images.
HP:0002643	Neonatal respiratory distress	Respiratory difficulty as newborn.
HP:0000218	High palate	Height of the palate more than 2 SD above the mean (objective) or palatal height at the level of the first permanent molar more than twice the height of the teeth (subjective).
HP:0008347	Decreased activity of mitochondrial complex IV	A reduction in the activity of the mitochondrial respiratory chain complex IV, which is part of the electron transport chain in mitochondria.
HP:0003577	Congenital onset	A phenotypic abnormality that is present at birth.
HP:0030319	Weakness of facial musculature	Reduced strength of one or more muscles innervated by the facial nerve (the seventh cranial nerve).
HP:0000007	Autosomal recessive inheritance	A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).

501 Non-OMIM Gene overlap(s)

ENSG00000285882
Size : 254,360 bases

Location : 25,799,308 - 26,053,668

ENSG00000284685
Size : 191,925 bases

Location : 29,150,700 - 29,342,625

ENSG00000288632
Size : 170,800 bases

Location : 29,454,238 - 29,625,038

ENSG00000291188
Size : 103,143 bases

Location : 29,126,038 - 29,229,181

ENSG00000231876
Size : 38,751 bases

Location : 26,313,385 - 26,352,136

ENSG00000286712
Size : 60,594 bases

Location : 26,558,123 - 26,618,717

ENSG00000261329
Size : 39,866 bases

Location : 27,690,261 - 27,730,127

ENSG00000283662
Size : 33,487 bases

Location : 28,270,007 - 28,303,494

ENSG00000261832
Size : 35,727 bases

Location : 28,467,692 - 28,503,419

ENSG00000289754
Size : 83,093 bases

Location : 28,548,361 - 28,631,454

ENSG00000288656
Size : 31,308 bases

Location : 28,603,376 - 28,634,684

ENSG00000261419
Size : 81,085 bases

Location : 28,671,017 - 28,752,102

ENSG00000260908
Size : 53,713 bases

Location : 29,065,053 - 29,118,766

RRN3P2
Size : 41,742 bases

Location : 29,086,297 - 29,128,039

ENSG00000260517
Size : 77,045 bases

Location : 29,150,982 - 29,228,027

ENSG00000198106
Size : 80,890 bases

Location : 29,302,541 - 29,383,431

SMG1P2
Size : 67,398 bases

Location : 29,538,889 - 29,606,287

TMEM219
Size : 32,165 bases

pLI : 0 LOEUF : 1.47 sHet : 0.031 pHaplo : 0.04 pTriplo : 0.46
Location : 29,952,206 - 29,984,371

NPIPB13
Size : 32,371 bases

Location : 30,234,218 - 30,266,589

SMG1P5
Size : 67,501 bases

Location : 30,278,874 - 30,346,375

SMG1P5
Size : 50,377 bases

Location : 30,296,339 - 30,346,716

ENSG00000282034
Size : 41,102 bases

Location : 30,715,388 - 30,756,490

KRBOX5
Size : 81,640 bases

pLI : 0.22 LOEUF : 0.89
Location : 31,724,550 - 31,806,190

ENSG00000261727
Size : 76,347 bases

Location : 32,019,759 - 32,096,106

ENSG00000291276
Size : 49,749 bases

Location : 32,114,566 - 32,164,315

HERC2P4
Size : 34,959 bases

Location : 32,163,432 - 32,198,391

ENSG00000260866
Size : 48,068 bases

Location : 32,399,456 - 32,447,524

HERC2P5
Size : 33,015 bases

Location : 32,753,674 - 32,786,689

ENSG00000261259
Size : 76,044 bases

Location : 32,963,314 - 33,039,358

ENSG00000291267
Size : 47,980 bases

Location : 33,054,930 - 33,102,910

ENSG00000260141
Size : 48,902 bases

Location : 33,057,850 - 33,106,752

HERC2P8
Size : 33,057 bases

Location : 33,106,350 - 33,139,407

ENSG00000259882
Size : 45,045 bases

Location : 33,379,969 - 33,425,014

ENSG00000282924
Size : 40,417 bases

Location : 33,525,823 - 33,566,240

CCNYL3
Size : 44,149 bases

Location : 34,274,535 - 34,318,684

ENSG00000260958
Size : 76,262 bases

Location : 34,442,255 - 34,518,517

ENSG00000261669
Size : 16,288 bases

Location : 24,814,772 - 24,831,060

NOVEL
Size : 1,611 bases

Location : 24,930,714 - 24,932,325

ENSG00000260714
Size : 5,045 bases

Location : 25,027,299 - 25,032,344

ENSG00000291179
Size : 1,082 bases

Location : 25,043,016 - 25,044,098

ENSG00000262587
Size : 26,228 bases

Location : 25,043,202 - 25,069,430

LINC02175
Size : 21,681 bases

Location : 25,078,258 - 25,099,939

SCML2P2
Size : 539 bases

Location : 25,080,891 - 25,081,430

ENSG00000263326
Size : 1,237 bases

Location : 25,082,811 - 25,084,048

LCMT1-AS1
Size : 26,387 bases

Location : 25,096,489 - 25,122,876

ENSG00000262700
Size : 1,868 bases

Location : 25,104,708 - 25,106,576

ENSG00000275494
Size : 576 bases

Location : 25,117,889 - 25,118,465

LCMT1-AS2
Size : 8,455 bases

Location : 25,151,898 - 25,160,353

KNOWN
Size : 280 bases

Location : 25,196,528 - 25,196,808

ZKSCAN2
Size : 21,844 bases

pLI : 0 LOEUF : 0.55 sHet : 0.013 pHaplo : 0.38 pTriplo : 0.33
Location : 25,247,322 - 25,269,166

ENSG00000259955
Size : 969 bases

Location : 25,249,639 - 25,250,608

ZKSCAN2-DT
Size : 3,114 bases

Location : 25,269,273 - 25,272,387

LINC02191
Size : 13,874 bases

Location : 25,431,133 - 25,445,007

CYCSP39
Size : 308 bases

Location : 25,465,660 - 25,465,968

ENSG00000260255
Size : 1,620 bases

Location : 25,836,031 - 25,837,651

KNOWN
Size : 73 bases

Location : 26,036,558 - 26,036,631

RNA5SP405
Size : 113 bases

Location : 26,040,233 - 26,040,346

HMGN2P3
Size : 272 bases

Location : 26,043,860 - 26,044,132

HSPE1P16
Size : 347 bases

Location : 26,074,071 - 26,074,418

ENSG00000228480
Size : 3,559 bases

Location : 26,366,117 - 26,369,676

LINC02195
Size : 10,701 bases

Location : 26,596,076 - 26,606,777

ENSG00000260580
Size : 7,252 bases

Location : 26,733,195 - 26,740,447

NOVEL
Size : 88 bases

Location : 26,747,550 - 26,747,638

C16orf82
Size : 2,239 bases

Location : 27,078,248 - 27,080,487

ENSG00000261482
Size : 930 bases

Location : 27,078,249 - 27,079,179

EEF1A1P38
Size : 1,696 bases

Location : 27,144,804 - 27,146,500

LINC02129
Size : 18,136 bases

Location : 27,169,772 - 27,187,908

ENSG00000259940
Size : 1,685 bases

Location : 27,224,629 - 27,226,314

NSMCE1-DT
Size : 22,287 bases

pLI : 0.03 LOEUF : 1.87
Location : 27,279,526 - 27,301,813

ENSG00000274092
Size : 714 bases

Location : 27,324,708 - 27,325,422

IL21R-AS1
Size : 5,724 bases

Location : 27,458,990 - 27,464,714

ENSG00000261736
Size : 1,464 bases

Location : 27,654,520 - 27,655,984

NOVEL
Size : 118 bases

Location : 27,673,221 - 27,673,339

ENSG00000273553
Size : 340 bases

Location : 27,698,503 - 27,698,843

NOVEL
Size : 108 bases

Location : 27,733,605 - 27,733,713

KNOWN
Size : 105 bases

Location : 27,874,572 - 27,874,677

KNOWN
Size : 106 bases

Location : 28,009,616 - 28,009,722

TPRKBP2
Size : 474 bases

Location : 28,122,494 - 28,122,968

NOVEL
Size : 125 bases

Location : 28,190,419 - 28,190,544

NOVEL
Size : 112 bases

Location : 28,194,639 - 28,194,751

GAPDHP35
Size : 975 bases

Location : 28,251,014 - 28,251,989

ENSG00000246465
Size : 7,179 bases

Location : 28,296,206 - 28,303,385

ENSG00000277191
Size : 106 bases

Location : 28,352,758 - 28,352,864

NPIPB6
Size : 20,991 bases

pLI : 0 LOEUF : 1.93 pHaplo : 0.17 pTriplo : 0.23
Location : 28,353,838 - 28,374,829

ENSG00000271623
Size : 633 bases

Location : 28,376,021 - 28,376,654

EIF3CL
Size : 24,262 bases

pLI : 0.01 LOEUF : 1.7 pHaplo : 0.11 pTriplo : 0.37
Location : 28,390,900 - 28,415,162

CDC37P2
Size : 1,315 bases

Location : 28,425,024 - 28,426,339

NOVEL
Size : 103 bases

Location : 28,453,987 - 28,454,090

ENSG00000275654
Size : 3,712 bases

Location : 28,462,965 - 28,466,677

ENSG00000270118
Size : 370 bases

Location : 28,465,462 - 28,465,832

KNOWN
Size : 14,175 bases

Location : 28,467,693 - 28,481,868

ENSG00000271495
Size : 327 bases

Location : 28,559,652 - 28,559,979

ENSG00000275441
Size : 491 bases

Location : 28,565,028 - 28,565,519

ENSG00000278665
Size : 2,640 bases

Location : 28,610,562 - 28,613,202

ENSG00000278725
Size : 2,179 bases

Location : 28,613,661 - 28,615,840

ENSG00000289755
Size : 18,038 bases

Location : 28,616,908 - 28,634,946

ENSG00000285020
Size : 2,753 bases

Location : 28,623,452 - 28,626,205

ENSG00000289756
Size : 3,419 bases

Location : 28,631,384 - 28,634,803

NPIPB8
Size : 21,090 bases

pLI : 0 LOEUF : 1.92 pHaplo : 0.1 pTriplo : 0.17
Location : 28,648,975 - 28,670,065

NOVEL
Size : 103 bases

Location : 28,683,554 - 28,683,657

CDC37P1
Size : 1,246 bases

Location : 28,711,615 - 28,712,861

ENSG00000270424
Size : 636 bases

Location : 28,761,280 - 28,761,916

NPIPB9
Size : 21,077 bases

pLI : 0.11 LOEUF : 1.86 pHaplo : 0.07 pTriplo : 0.2
Location : 28,763,108 - 28,784,185

ENSG00000278528
Size : 3,710 bases

Location : 28,785,145 - 28,788,855

NOVEL
Size : 103 bases

Location : 28,797,731 - 28,797,834

ENSG00000251417
Size : 15,085 bases

Location : 28,814,064 - 28,829,149

ENSG00000240634
Size : 693 bases

Location : 28,825,301 - 28,825,994

ENSG00000260796
Size : 1,463 bases

Location : 28,831,891 - 28,833,354

ENSG00000275807
Size : 1,538 bases

Location : 28,833,752 - 28,835,290

ENSG00000260570
Size : 6,588 bases

Location : 28,841,933 - 28,848,521

KNOWN
Size : 88 bases

Location : 28,855,240 - 28,855,328

ENSG00000261766
Size : 1,174 bases

Location : 28,873,487 - 28,874,661

ATP2A1-AS1
Size : 2,000 bases

Location : 28,889,259 - 28,891,259

NOVEL
Size : 127 bases

Location : 28,892,801 - 28,892,928

NFATC2IP-AS1
Size : 14,067 bases

Location : 28,964,137 - 28,978,204

KNOWN
Size : 78 bases

Location : 28,969,904 - 28,969,982

ENSG00000260367
Size : 4,862 bases

Location : 28,985,283 - 28,990,145

ENSG00000261067
Size : 15,971 bases

Location : 28,986,125 - 29,002,096

ENSG00000261552
Size : 1,638 bases

Location : 29,000,461 - 29,002,099

NPIPB10P
Size : 14,071 bases

pLI : 0.1 LOEUF : 1.88
Location : 29,049,976 - 29,064,047

NOVEL
Size : 103 bases

Location : 29,077,576 - 29,077,679

ENSG00000284671
Size : 29,140 bases

Location : 29,086,343 - 29,115,483

ENSG00000290677
Size : 4,451 bases

Location : 29,114,978 - 29,119,429

ENSG00000284649
Size : 3,276 bases

Location : 29,124,371 - 29,127,647

ENSG00000289080
Size : 2,400 bases

Location : 29,156,759 - 29,159,159

ENSG00000279106
Size : 1,222 bases

Location : 29,215,954 - 29,217,176

ENSG00000259807
Size : 5,655 bases

Location : 29,226,706 - 29,232,361

ENSG00000273582
Size : 754 bases

Location : 29,236,915 - 29,237,669

ENSG00000260953
Size : 2,206 bases

Location : 29,273,594 - 29,275,800

ENSG00000277999
Size : 552 bases

Location : 29,283,541 - 29,284,093

ENSG00000289029
Size : 2,273 bases

Location : 29,300,120 - 29,302,393

ENSG00000260413
Size : 18,927 bases

Location : 29,323,671 - 29,342,598

ENSG00000290680
Size : 19,526 bases

Location : 29,362,067 - 29,381,593

SNX29P2
Size : 9,272 bases

Location : 29,367,108 - 29,376,380

ENSG00000278078
Size : 103 bases

Location : 29,391,563 - 29,391,666

NPIPB11
Size : 25,401 bases

pLI : 0.01 LOEUF : 1.13 pHaplo : 0.1 pTriplo : 0.26
Location : 29,392,631 - 29,418,032

SMG1P6
Size : 21,226 bases

Location : 29,437,121 - 29,458,347

NOVEL
Size : 103 bases

Location : 29,448,818 - 29,448,921

BOLA2-SMG1P6
Size : 11,421 bases

Location : 29,454,551 - 29,465,972

ENSG00000260335
Size : 434 bases

Location : 29,460,512 - 29,460,946

SLX1B-SULT1A4
Size : 9,858 bases

pLI : 0.38 LOEUF : 1.74
Location : 29,466,426 - 29,476,284

ENSG00000290678
Size : 2,866 bases

Location : 29,476,288 - 29,479,154

ENSG00000258150
Size : 519 bases

Location : 29,476,543 - 29,477,062

ENSG00000279228
Size : 1,196 bases

Location : 29,477,390 - 29,478,586

ENSG00000290679
Size : 417 bases

Location : 29,478,482 - 29,478,899

ENSG00000257691
Size : 291 bases

Location : 29,486,385 - 29,486,676

ENSG00000257506
Size : 3,712 bases

Location : 29,490,200 - 29,493,912

NPIPB12
Size : 22,874 bases

pLI : 0.28 LOEUF : 1.9
Location : 29,494,855 - 29,517,729

NOVEL
Size : 103 bases

Location : 29,550,583 - 29,550,686

ENSG00000279583
Size : 1,007 bases

Location : 29,606,451 - 29,607,458

KNOWN
Size : 86 bases

Location : 29,610,500 - 29,610,586

SLC7A5P1
Size : 537 bases

Location : 29,624,424 - 29,624,961

CA5AP1
Size : 17,543 bases

Location : 29,630,106 - 29,647,649

ENSG00000260514
Size : 308 bases

Location : 29,635,838 - 29,636,146

ENSG00000289181
Size : 172 bases

Location : 29,720,477 - 29,720,649

KNOWN
Size : 353 bases

Location : 29,742,372 - 29,742,725

C16orf54
Size : 3,527 bases

pLI : 0.37 LOEUF : 1.01 pHaplo : 0.09 pTriplo : 0.25
Location : 29,753,784 - 29,757,311

ENSG00000260719
Size : 3,052 bases

Location : 29,756,568 - 29,759,620

ENSG00000275857
Size : 560 bases

Location : 29,815,751 - 29,816,311

ENSG00000259952
Size : 1,236 bases

Location : 29,817,817 - 29,819,053

MVP-DT
Size : 12,616 bases

Location : 29,819,957 - 29,832,573

ENSG00000280607
Size : 3,548 bases

Location : 29,820,000 - 29,823,548

ENSG00000280893
Size : 7,831 bases

Location : 29,823,582 - 29,831,413

ENSG00000281348
Size : 13,388 bases

Location : 29,828,560 - 29,841,948

ENSG00000278713
Size : 657 bases

Location : 29,874,081 - 29,874,738

CDIPTOSP
Size : 4,460 bases

Location : 29,874,914 - 29,879,374

ASPHD1
Size : 19,489 bases

pLI : 0 LOEUF : 1 sHet : 0.013 pHaplo : 0.23 pTriplo : 0.61
Location : 29,911,696 - 29,931,185

ENSG00000279789
Size : 2,193 bases

Location : 29,924,465 - 29,926,658

KCTD13-DT
Size : 2,097 bases

Location : 29,938,157 - 29,940,254

INO80E
Size : 10,078 bases

pLI : 0.01 LOEUF : 0.95 sHet : 0.005 pHaplo : 0.1 pTriplo : 0.51
Location : 30,007,036 - 30,017,114

ENSG00000285043
Size : 17,291 bases

Location : 30,064,444 - 30,081,735

ENSG00000274904
Size : 519 bases

Location : 30,075,627 - 30,076,146

YPEL3-DT
Size : 8,763 bases

Location : 30,107,751 - 30,116,514

ENSG00000261367
Size : 2,866 bases

Location : 30,118,996 - 30,121,862

ENSG00000275371
Size : 1,060 bases

Location : 30,122,216 - 30,123,276

CORO1A-AS1
Size : 1,452 bases

Location : 30,194,826 - 30,196,278

BOLA2B
Size : 1,374 bases

pHaplo : 0.15 pTriplo : 0.29
Location : 30,204,253 - 30,205,627

SLX1A-SULT1A3
Size : 10,418 bases

Location : 30,205,213 - 30,215,631

ENSG00000290692
Size : 4,755 bases

Location : 30,215,637 - 30,220,392

ENSG00000258130
Size : 519 bases

Location : 30,215,892 - 30,216,411

ENSG00000278887
Size : 1,196 bases

Location : 30,216,739 - 30,217,935

ENSG00000290693
Size : 417 bases

Location : 30,217,831 - 30,218,248

ENSG00000261444
Size : 290 bases

Location : 30,225,730 - 30,226,020

ENSG00000261203
Size : 3,710 bases

Location : 30,229,541 - 30,233,251

ENSG00000291047
Size : 9,905 bases

Location : 30,281,386 - 30,291,291

NOVEL
Size : 103 bases

Location : 30,290,569 - 30,290,672

ENSG00000273724
Size : 6,936 bases

Location : 30,347,721 - 30,354,657

CD2BP2-DT
Size : 8,956 bases

Location : 30,365,986 - 30,374,942

ENSG00000274653
Size : 511 bases

Location : 30,371,146 - 30,371,657

ZNF48
Size : 22,002 bases

pLI : 0.01 LOEUF : 0.69 sHet : 0.024 pHaplo : 0.13 pTriplo : 0.58
Location : 30,389,427 - 30,411,429

ENSG00000280137
Size : 347 bases

Location : 30,391,084 - 30,391,431

ZNF771
Size : 23,694 bases

pLI : 0.06 LOEUF : 1.02 sHet : 0.069 pHaplo : 0.07 pTriplo : 0.56
Location : 30,418,735 - 30,442,429

NOVEL
Size : 134 bases

Location : 30,430,946 - 30,431,080

NOVEL
Size : 100 bases

Location : 30,465,318 - 30,465,418

NOVEL
Size : 116 bases

Location : 30,482,908 - 30,483,024

ENSG00000261346
Size : 12,173 bases

Location : 30,488,501 - 30,500,674

ENSG00000260487
Size : 758 bases

Location : 30,491,909 - 30,492,667

KNOWN
Size : 60 bases

Location : 30,494,456 - 30,494,516

ENSG00000261332
Size : 788 bases

Location : 30,510,087 - 30,510,875

KNOWN
Size : 82 bases

Location : 30,515,240 - 30,515,322

ENSG00000261459
Size : 8,929 bases

Location : 30,537,244 - 30,546,173

ENSG00000278922
Size : 1,376 bases

Location : 30,538,239 - 30,539,615

ZNF747
Size : 4,980 bases

pLI : 0.07 LOEUF : 1.47 sHet : 0.006 pHaplo : 0.08 pTriplo : 0.47
Location : 30,541,688 - 30,546,668

ZNF747-DT
Size : 2,397 bases

Location : 30,546,073 - 30,548,470

ENSG00000260494
Size : 1,029 bases

Location : 30,548,523 - 30,549,552

ZNF688
Size : 3,062 bases

pLI : 0 LOEUF : 1.67 sHet : 0.006 pHaplo : 0.11 pTriplo : 0.75
Location : 30,580,993 - 30,584,055

ENSG00000239791
Size : 11,821 bases

Location : 30,583,360 - 30,595,181

ZNF785
Size : 12,029 bases

pLI : 0 LOEUF : 1.94 sHet : 0.004 pHaplo : 0.08 pTriplo : 0.55
Location : 30,585,061 - 30,597,090

ENSG00000260167
Size : 22,686 bases

Location : 30,597,228 - 30,619,914

ENSG00000261588
Size : 258 bases

Location : 30,598,983 - 30,599,241

ENSG00000289491
Size : 140 bases

Location : 30,621,532 - 30,621,672

ENSG00000260678
Size : 423 bases

Location : 30,626,577 - 30,627,000

ENSG00000261680
Size : 429 bases

Location : 30,635,606 - 30,636,035

ENSG00000260113
Size : 202 bases

Location : 30,638,297 - 30,638,499

ENSG00000288983
Size : 1,065 bases

Location : 30,645,828 - 30,646,893

KNOWN
Size : 102 bases

Location : 30,686,621 - 30,686,723

ENSG00000261840
Size : 1,354 bases

Location : 30,709,025 - 30,710,379

KNOWN
Size : 98 bases

Location : 30,712,658 - 30,712,756

KNOWN
Size : 128 bases

Location : 30,721,858 - 30,721,986

TMEM265
Size : 4,554 bases

Location : 30,751,963 - 30,756,517

ENSG00000260899
Size : 10,714 bases

Location : 30,751,988 - 30,762,702

ENSG00000280211
Size : 2,501 bases

Location : 30,784,853 - 30,787,354

ENSG00000260082
Size : 1,042 bases

Location : 30,832,389 - 30,833,431

ENSG00000274678
Size : 546 bases

Location : 30,832,659 - 30,833,205

MIR762HG
Size : 19,998 bases

Location : 30,886,543 - 30,906,541

KNOWN
Size : 57 bases

Location : 30,886,587 - 30,886,644

ENSG00000262721
Size : 19,450 bases

Location : 30,887,087 - 30,906,537

KNOWN
Size : 82 bases

Location : 30,905,224 - 30,905,306

CTF2P
Size : 5,860 bases

Location : 30,915,669 - 30,921,529

FBXL19-AS1
Size : 3,950 bases

Location : 30,930,640 - 30,934,590

ENSG00000261487
Size : 8,125 bases

Location : 30,959,707 - 30,967,832

ENSG00000275263
Size : 327 bases

Location : 30,968,193 - 30,968,520

ENSG00000279196
Size : 3,640 bases

Location : 30,995,951 - 30,999,591

ENSG00000260911
Size : 6,718 bases

Location : 31,054,471 - 31,061,189

ENSG00000232748
Size : 6,343 bases

Location : 31,067,781 - 31,074,124

ENSG00000261124
Size : 3,751 bases

Location : 31,076,816 - 31,080,567

ENSG00000255439
Size : 11,517 bases

Location : 31,094,760 - 31,106,277

ENSG00000280160
Size : 2,217 bases

Location : 31,105,048 - 31,107,265

NOVEL
Size : 83 bases

Location : 31,120,551 - 31,120,634

ENSG00000262766
Size : 669 bases

Location : 31,129,399 - 31,130,068

ENSG00000278133
Size : 1,829 bases

Location : 31,133,556 - 31,135,385

ENSG00000261385
Size : 444 bases

Location : 31,142,754 - 31,143,198

ENSG00000263343
Size : 279 bases

Location : 31,176,969 - 31,177,248

NDUFA3P6
Size : 249 bases

Location : 31,185,894 - 31,186,143

ENSG00000260304
Size : 774 bases

Location : 31,193,832 - 31,194,606

ENSG00000260060
Size : 832 bases

Location : 31,207,452 - 31,208,284

PYCARD-AS1
Size : 1,567 bases

pLI : 0.34 LOEUF : 1.82
Location : 31,213,206 - 31,214,773

KNOWN
Size : 54 bases

Location : 31,278,758 - 31,278,812

ENSG00000289930
Size : 801 bases

Location : 31,363,088 - 31,363,889

ENSG00000261245
Size : 417 bases

Location : 31,372,599 - 31,373,016

ENSG00000260757
Size : 2,134 bases

Location : 31,413,886 - 31,416,020

ENSG00000277543
Size : 466 bases

Location : 31,439,501 - 31,439,967

ZNF843
Size : 10,567 bases

pLI : 0 LOEUF : 1.48 pHaplo : 0.09 pTriplo : 0.28
Location : 31,443,914 - 31,454,481

ENSG00000261474
Size : 3,958 bases

Location : 31,460,856 - 31,464,814

ENSG00000260267
Size : 3,025 bases

Location : 31,468,032 - 31,471,057

ENSG00000280132
Size : 1,904 bases

Location : 31,481,525 - 31,483,429

ENSG00000260740
Size : 1,122 bases

Location : 31,498,691 - 31,499,813

RUSF1
Size : 19,838 bases

pLI : 0 LOEUF : 1.39
Location : 31,500,792 - 31,520,630

RUSF1-DT
Size : 1,102 bases

Location : 31,519,785 - 31,520,887

ENSG00000289889
Size : 5,482 bases

Location : 31,528,123 - 31,533,605

LINC02190
Size : 10,856 bases

Location : 31,554,069 - 31,564,925

ENSG00000261648
Size : 539 bases

Location : 31,558,019 - 31,558,558

VN1R64P
Size : 932 bases

Location : 31,558,126 - 31,559,058

VN1R65P
Size : 807 bases

Location : 31,565,426 - 31,566,233

FRG2KP
Size : 1,701 bases

Location : 31,574,403 - 31,576,104

FRG2KP
Size : 4,531 bases

Location : 31,574,506 - 31,579,037

ENSG00000278885
Size : 640 bases

Location : 31,577,681 - 31,578,321

YBX3P1
Size : 1,089 bases

Location : 31,579,707 - 31,580,796

KRBOX5P1
Size : 1,938 bases

Location : 31,612,914 - 31,614,852

VN1R66P
Size : 915 bases

Location : 31,659,628 - 31,660,543

RBM22P12
Size : 1,254 bases

Location : 31,692,168 - 31,693,422

ENSG00000260472
Size : 210 bases

Location : 31,708,718 - 31,708,928

ENSG00000260568
Size : 789 bases

Location : 31,710,997 - 31,711,786

ENSG00000290927
Size : 11,428 bases

Location : 31,711,879 - 31,723,307

CLUHP3
Size : 5,413 bases

Location : 31,714,489 - 31,719,902

ENSG00000276867
Size : 532 bases

Location : 31,716,049 - 31,716,581

ENSG00000261731
Size : 2,871 bases

Location : 31,720,434 - 31,723,305

ENSG00000259810
Size : 2,791 bases

Location : 31,799,523 - 31,802,314

VN1R67P
Size : 912 bases

Location : 31,812,906 - 31,813,818

ENSG00000261457
Size : 5,026 bases

Location : 31,814,268 - 31,819,294

VN1R3
Size : 918 bases

Location : 31,819,247 - 31,820,165

RBM22P13
Size : 1,243 bases

Location : 31,874,954 - 31,876,197

ENSG00000259874
Size : 237 bases

Location : 31,882,208 - 31,882,445

ENSG00000259950
Size : 441 bases

Location : 31,905,863 - 31,906,304

ENSG00000261289
Size : 313 bases

Location : 31,963,481 - 31,963,794

ENSG00000197476
Size : 318 bases

Location : 31,973,384 - 31,973,702

ENSG00000260218
Size : 276 bases

Location : 31,975,124 - 31,975,400

ENSG00000260628
Size : 29,154 bases

Location : 31,987,124 - 32,016,278

ENSG00000291271
Size : 12,615 bases

Location : 31,993,191 - 32,005,806

ENSG00000290953
Size : 1,255 bases

Location : 32,006,142 - 32,007,397

IGHV1OR16-1
Size : 473 bases

Location : 32,046,174 - 32,046,647

ENSG00000223931
Size : 455 bases

Location : 32,063,146 - 32,063,601

IGHV1OR16-3
Size : 288 bases

Location : 32,070,405 - 32,070,693

IGHV3OR16-9
Size : 293 bases

Location : 32,077,386 - 32,077,679

ENSG00000260584
Size : 297 bases

Location : 32,128,021 - 32,128,318

ENSG00000286473
Size : 6,292 bases

Location : 32,137,753 - 32,144,045

ENSG00000290845
Size : 18,123 bases

Location : 32,181,305 - 32,199,428

ENSG00000279997
Size : 687 bases

Location : 32,196,945 - 32,197,632

ENSG00000260847
Size : 5,197 bases

Location : 32,199,654 - 32,204,851

ENSG00000260649
Size : 219 bases

Location : 32,200,583 - 32,200,802

ABHD17AP8
Size : 2,920 bases

Location : 32,211,223 - 32,214,143

ENSG00000260344
Size : 123 bases

Location : 32,224,701 - 32,224,824

ENSG00000260575
Size : 3,802 bases

Location : 32,261,941 - 32,265,743

TP53TG3D
Size : 2,642 bases

pLI : 0.01 LOEUF : 1.83 pHaplo : 0.06 pTriplo : 0.19
Location : 32,264,607 - 32,267,249

ENSG00000260402
Size : 2,687 bases

Location : 32,274,148 - 32,276,835

ENSG00000259822
Size : 249 bases

Location : 32,290,187 - 32,290,436

ENSG00000261127
Size : 21,008 bases

Location : 32,300,868 - 32,321,876

CHEK2P7
Size : 6,714 bases

Location : 32,368,302 - 32,375,016

ACTR3BP3
Size : 978 bases

Location : 32,390,392 - 32,391,370

PABPC1P13
Size : 2,090 bases

Location : 32,450,390 - 32,452,480

ENSG00000261541
Size : 4,146 bases

Location : 32,465,933 - 32,470,079

ENSG00000260662
Size : 96 bases

Location : 32,471,587 - 32,471,683

ABCD1P3
Size : 3,199 bases

Location : 32,486,372 - 32,489,571

ENSG00000289734
Size : 15,272 bases

Location : 32,611,620 - 32,626,892

FAM153DP
Size : 13,064 bases

Location : 32,613,896 - 32,626,960

ENSG00000262187
Size : 3,451 bases

Location : 32,630,054 - 32,633,505

ENSG00000261111
Size : 372 bases

Location : 32,646,994 - 32,647,366

ENSG00000261569
Size : 14,763 bases

Location : 32,660,514 - 32,675,277

ENSG00000261263
Size : 715 bases

Location : 32,661,516 - 32,662,231

ENSG00000282927
Size : 244 bases

Location : 32,661,995 - 32,662,239

ENSG00000260311
Size : 2,608 bases

Location : 32,675,246 - 32,677,854

TP53TG3F
Size : 2,637 bases

Location : 32,684,849 - 32,687,486

ENSG00000260974
Size : 3,794 bases

Location : 32,686,358 - 32,690,152

ENSG00000261391
Size : 125 bases

Location : 32,727,252 - 32,727,377

ABHD17AP7
Size : 2,922 bases

Location : 32,737,936 - 32,740,858

ENSG00000260845
Size : 5,185 bases

Location : 32,747,230 - 32,752,415

ENSG00000261108
Size : 539 bases

Location : 32,750,948 - 32,751,487

ENSG00000291274
Size : 12,024 bases

Location : 32,752,635 - 32,764,659

ENSG00000291275
Size : 10,655 bases

Location : 32,772,264 - 32,782,919

ENSG00000290984
Size : 1,267 bases

Location : 32,786,250 - 32,787,517

ENSG00000278950
Size : 2,255 bases

Location : 32,793,204 - 32,795,459

ENSG00000279780
Size : 985 bases

Location : 32,797,715 - 32,798,700

ENSG00000279795
Size : 982 bases

Location : 32,799,283 - 32,800,265

ENSG00000260158
Size : 15,089 bases

Location : 32,820,877 - 32,835,966

ENSG00000261719
Size : 222 bases

Location : 32,822,350 - 32,822,572

ENSG00000259934
Size : 216 bases

Location : 32,857,285 - 32,857,501

IGHV2OR16-5
Size : 443 bases

Location : 32,859,034 - 32,859,477

BCAP31P2
Size : 3,143 bases

Location : 32,881,306 - 32,884,449

SLC6A10P
Size : 7,673 bases

Location : 32,888,790 - 32,896,463

SLC6A10P
Size : 6,795 bases

Location : 32,890,027 - 32,896,822

ENSG00000214614
Size : 6,288 bases

Location : 32,893,907 - 32,900,195

IGHV3OR16-15
Size : 452 bases

Location : 32,914,763 - 32,915,215

IGHV3OR16-6
Size : 462 bases

Location : 32,926,395 - 32,926,857

ENSG00000277304
Size : 29,418 bases

Location : 32,928,295 - 32,957,713

ENSG00000260610
Size : 801 bases

Location : 32,943,089 - 32,943,890

IGHV1OR16-2
Size : 430 bases

Location : 32,989,782 - 32,990,212

IGHV3OR16-10
Size : 457 bases

Location : 33,006,369 - 33,006,826

ENSG00000260921
Size : 1,233 bases

Location : 33,006,858 - 33,008,091

IGHV1OR16-4
Size : 288 bases

Location : 33,013,654 - 33,013,942

IGHV3OR16-8
Size : 445 bases

Location : 33,020,496 - 33,020,941

ENSG00000260900
Size : 162 bases

Location : 33,071,257 - 33,071,419

ENSG00000291268
Size : 1,267 bases

Location : 33,105,525 - 33,106,792

ENSG00000290986
Size : 10,657 bases

Location : 33,110,129 - 33,120,786

ENSG00000291269
Size : 17,408 bases

Location : 33,123,003 - 33,140,411

ENSG00000261682
Size : 5,183 bases

Location : 33,140,637 - 33,145,820

ENSG00000259800
Size : 207 bases

Location : 33,141,556 - 33,141,763

ABHD17AP9
Size : 2,947 bases

Location : 33,152,171 - 33,155,118

ENSG00000260414
Size : 123 bases

Location : 33,165,673 - 33,165,796

ENSG00000260419
Size : 3,793 bases

Location : 33,202,882 - 33,206,675

TP53TG3E
Size : 2,639 bases

Location : 33,205,547 - 33,208,186

TP53TG3C
Size : 2,632 bases

pHaplo : 0.12 pTriplo : 0.31
Location : 33,205,547 - 33,208,179

ENSG00000260827
Size : 2,689 bases

Location : 33,215,094 - 33,217,783

NOVEL
Size : 13,831 bases

Location : 33,217,752 - 33,231,583

ENSG00000282973
Size : 214 bases

Location : 33,246,423 - 33,246,637

TP53TG3B
Size : 2,637 bases

pHaplo : 0.07 pTriplo : 0.29
Location : 33,262,082 - 33,264,719

ENSG00000261009
Size : 2,442 bases

Location : 33,271,714 - 33,274,156

ENSG00000283110
Size : 244 bases

Location : 33,287,346 - 33,287,590

ENSG00000262090
Size : 150 bases

Location : 33,298,410 - 33,298,560

ENSG00000260626
Size : 1,160 bases

Location : 33,336,283 - 33,337,443

ENSG00000261200
Size : 3,970 bases

Location : 33,344,309 - 33,348,279

ENSG00000261466
Size : 6,111 bases

Location : 33,350,764 - 33,356,875

ENSG00000290420
Size : 1,697 bases

Location : 33,365,116 - 33,366,813

CHEK2P6
Size : 7,905 bases

Location : 33,365,497 - 33,373,402

KNOWN
Size : 129 bases

Location : 33,379,962 - 33,380,091

ENSG00000290414
Size : 1,056 bases

Location : 33,489,492 - 33,490,548

BMS1P8
Size : 11,174 bases

Location : 33,489,797 - 33,500,971

ENSG00000291264
Size : 18,991 bases

Location : 33,490,689 - 33,509,680

ENPP7P13
Size : 258 bases

Location : 33,571,888 - 33,572,146

ENSG00000260308
Size : 213 bases

Location : 33,573,502 - 33,573,715

IGHV3OR16-12
Size : 453 bases

Location : 33,605,231 - 33,605,684

ENSG00000261153
Size : 1,989 bases

Location : 33,611,245 - 33,613,234

IGHV3OR16-13
Size : 447 bases

Location : 33,629,681 - 33,630,128

IGHV3OR16-17
Size : 445 bases

pLI : 0.01 LOEUF : 1.95
Location : 33,647,251 - 33,647,696

ENSG00000270924
Size : 168 bases

Location : 33,650,943 - 33,651,111

ENSG00000271691
Size : 284 bases

Location : 33,654,252 - 33,654,536

ENSG00000260312
Size : 929 bases

Location : 33,660,402 - 33,661,331

IGHV3OR16-11
Size : 456 bases

Location : 33,661,363 - 33,661,819

ENSG00000260525
Size : 429 bases

Location : 33,677,506 - 33,677,935

ARHGAP23P1
Size : 29,605 bases

Location : 33,709,886 - 33,739,491

ENSG00000290419
Size : 737 bases

Location : 33,738,897 - 33,739,634

IGHV3OR16-7
Size : 462 bases

Location : 33,740,804 - 33,741,266

ENSG00000261607
Size : 270 bases

Location : 33,750,745 - 33,751,015

IGHV3OR16-16
Size : 444 bases

Location : 33,752,443 - 33,752,887

ENSG00000205452
Size : 11,799 bases

Location : 33,767,014 - 33,778,813

ENSG00000270401
Size : 436 bases

Location : 33,768,122 - 33,768,558

ENSG00000198555
Size : 11,591 bases

Location : 33,778,506 - 33,790,097

BCAP31P1
Size : 3,145 bases

Location : 33,790,873 - 33,794,018

ENSG00000259990
Size : 436 bases

Location : 33,815,861 - 33,816,297

ENSG00000283065
Size : 217 bases

Location : 33,817,727 - 33,817,944

ENSG00000261197
Size : 223 bases

Location : 33,853,607 - 33,853,830

ENSG00000262561
Size : 207 bases

Location : 33,922,937 - 33,923,144

DUX4L45
Size : 1,056 bases

Location : 33,938,203 - 33,939,259

PCMTD1P2
Size : 354 bases

Location : 33,941,656 - 33,942,010

DUX4L46
Size : 750 bases

Location : 33,943,723 - 33,944,473

DUX4L47
Size : 393 bases

Location : 33,944,923 - 33,945,316

NOVEL
Size : 72 bases

Location : 33,945,949 - 33,946,021

LINC00273
Size : 1,451 bases

Location : 33,961,052 - 33,962,503

NOVEL
Size : 114 bases

Location : 33,961,652 - 33,961,766

RNA5-8SP2
Size : 151 bases

Location : 33,965,426 - 33,965,577

ENSG00000279165
Size : 1,903 bases

Location : 34,176,348 - 34,178,251

ENSG00000286968
Size : 2,300 bases

Location : 34,197,341 - 34,199,641

ENSG00000287353
Size : 2,300 bases

Location : 34,197,341 - 34,199,641

LINC02184
Size : 1,100 bases

Location : 34,213,115 - 34,214,215

KNOWN
Size : 240 bases

Location : 34,213,746 - 34,213,986

NOVEL
Size : 363 bases

Location : 34,232,106 - 34,232,469

ENSG00000179755
Size : 2,480 bases

Location : 34,256,120 - 34,258,600

ENSG00000288300
Size : 2,228 bases

Location : 34,256,372 - 34,258,600

ENSG00000261566
Size : 1,399 bases

Location : 34,257,222 - 34,258,621

ENSG00000262885
Size : 426 bases

Location : 34,257,710 - 34,258,136

ENSG00000284209
Size : 29,610 bases

Location : 34,265,090 - 34,294,700

CLUHP11
Size : 16,849 bases

Location : 34,302,582 - 34,319,431

NAMPTP3
Size : 223 bases

Location : 34,320,267 - 34,320,490

VPS35P1
Size : 14,333 bases

Location : 34,324,872 - 34,339,205

VN1R68P
Size : 718 bases

Location : 34,352,609 - 34,353,327

VN1R69P
Size : 561 bases

Location : 34,368,885 - 34,369,446

KNOWN
Size : 510 bases

Location : 34,375,269 - 34,375,779

ENSG00000261800
Size : 2,407 bases

Location : 34,378,093 - 34,380,500

KNOWN
Size : 489 bases

Location : 34,378,356 - 34,378,845

ENSG00000280180
Size : 5,730 bases

Location : 34,383,007 - 34,388,737

KNOWN
Size : 333 bases

Location : 34,383,828 - 34,384,161

UBE2MP1
Size : 549 bases

Location : 34,404,063 - 34,404,612

SLC25A1P4
Size : 777 bases

Location : 34,407,687 - 34,408,464

ENSG00000260073
Size : 2,974 bases

Location : 34,427,058 - 34,430,032

ENSG00000260590
Size : 399 bases

Location : 34,427,706 - 34,428,105

ENSG00000261398
Size : 1,765 bases

Location : 34,430,150 - 34,431,915

TP53TG3GP
Size : 333 bases

Location : 34,442,274 - 34,442,607

NOVEL
Size : 65 bases

Location : 34,442,877 - 34,442,942

RARRES2P5
Size : 465 bases

Location : 34,455,954 - 34,456,419

FGFR3P5
Size : 3,572 bases

Location : 34,466,783 - 34,470,355

FRG2JP
Size : 1,618 bases

Location : 34,480,287 - 34,481,905

RARRES2P6
Size : 441 bases

Location : 34,489,563 - 34,490,004

AGGF1P8
Size : 999 bases

Location : 34,493,001 - 34,494,000

NOVEL
Size : 101 bases

Location : 34,510,863 - 34,510,964

FRG2HP
Size : 1,612 bases

Location : 34,569,648 - 34,571,260

RARRES2P9
Size : 468 bases

Location : 34,578,462 - 34,578,930

AGGF1P9
Size : 912 bases

Location : 34,581,756 - 34,582,668

C2orf69P4
Size : 540 bases

Location : 34,586,853 - 34,587,393

LINC01566
Size : 27,172 bases

Location : 34,597,783 - 34,624,955

FRG2GP
Size : 942 bases

Location : 34,618,515 - 34,619,457

AGGF1P4
Size : 800 bases

Location : 34,623,574 - 34,624,374

FRG2IP
Size : 1,602 bases

Location : 34,640,118 - 34,641,720

RARRES2P7
Size : 468 bases

Location : 34,648,650 - 34,649,118

AGGF1P5
Size : 918 bases

Location : 34,654,662 - 34,655,580

C2orf69P3
Size : 1,119 bases

Location : 34,659,735 - 34,660,854

ENSG00000278681
Size : 1,038 bases

Location : 34,669,674 - 34,670,712

ZNF971P
Size : 2,513 bases

Location : 34,681,269 - 34,683,782

ENSG00000287163
Size : 2,089 bases

Location : 34,685,269 - 34,687,358

ENSG00000290413
Size : 3,067 bases

Location : 34,711,785 - 34,714,852

FRG2DP
Size : 822 bases

Location : 34,712,988 - 34,713,810

RARRES2P10
Size : 459 bases

Location : 34,720,137 - 34,720,596

AGGF1P6
Size : 975 bases

Location : 34,723,608 - 34,724,583

ENSG00000261350
Size : 1,221 bases

Location : 34,725,545 - 34,726,766

C2orf69P2
Size : 1,122 bases

Location : 34,726,695 - 34,727,817

ENSG00000261445
Size : 2,703 bases

Location : 34,728,125 - 34,730,828

ENSG00000287448
Size : 22,971 bases

Location : 34,733,865 - 34,756,836

ENSG00000260857
Size : 2,197 bases

Location : 34,738,741 - 34,740,938

TP53TG3HP
Size : 578 bases

Location : 34,740,963 - 34,741,541

ENSG00000282946
Size : 951 bases

Location : 34,762,738 - 34,763,689

RARRES2P8
Size : 366 bases

Location : 34,777,650 - 34,778,016

AGGF1P7
Size : 912 bases

Location : 34,782,288 - 34,783,200

C2orf69P1
Size : 1,092 bases

Location : 34,787,280 - 34,788,372

C1QL1P1
Size : 660 bases

Location : 34,809,205 - 34,809,865

KIF18BP1
Size : 8,493 bases

Location : 34,871,058 - 34,879,551

ENSG00000259791
Size : 553 bases

Location : 34,874,400 - 34,874,953

ENSG00000260522
Size : 261 bases

Location : 34,956,639 - 34,956,900

RNA5SP406
Size : 111 bases

Location : 34,968,764 - 34,968,875

RNA5SP407
Size : 109 bases

Location : 34,969,010 - 34,969,119

RNA5SP408
Size : 99 bases

Location : 34,969,743 - 34,969,842

RNA5SP409
Size : 108 bases

Location : 34,969,996 - 34,970,104

LINC02167
Size : 13,247 bases

Location : 34,977,639 - 34,990,886

RNA5SP410
Size : 105 bases

Location : 34,980,360 - 34,980,465

RNA5SP411
Size : 113 bases

Location : 34,980,894 - 34,981,007

RNA5SP412
Size : 122 bases

Location : 34,981,143 - 34,981,265

RNA5SP413
Size : 108 bases

Location : 34,981,403 - 34,981,511

RNA5SP414
Size : 135 bases

Location : 34,982,891 - 34,983,026

RNA5SP415
Size : 114 bases

Location : 34,984,432 - 34,984,546

RNA5SP416
Size : 110 bases

Location : 34,985,945 - 34,986,055

RNA5SP417
Size : 107 bases

Location : 34,986,199 - 34,986,306

RNA5SP418
Size : 116 bases

Location : 34,987,197 - 34,987,313

RNA5SP419
Size : 134 bases

Location : 34,988,167 - 34,988,301

RNA5SP420
Size : 136 bases

Location : 34,988,417 - 34,988,553

RNA5SP421
Size : 133 bases

Location : 34,988,926 - 34,989,059

RNA5SP422
Size : 110 bases

Location : 34,989,294 - 34,989,404

RNA5SP423
Size : 108 bases

Location : 34,989,548 - 34,989,656

ENSG00000260611
Size : 1,318 bases

Location : 35,019,940 - 35,021,258

HMGN2P41
Size : 411 bases

Location : 35,037,240 - 35,037,651

VN1R70P
Size : 846 bases

Location : 35,071,257 - 35,072,103

ENSG00000261782
Size : 462 bases

Location : 35,113,407 - 35,113,869

NOVEL
Size : 109 bases

Location : 35,136,344 - 35,136,453

ENSG00000279666
Size : 1,799 bases

Location : 35,137,488 - 35,139,287

PPP1R1AP2
Size : 396 bases

Location : 35,146,491 - 35,146,887

0 ClinGen CNV overlap(s) (>= 70% only)

0 Benign CNV 0 Likely benign CNV 0 Uncertain CNV 0 Likely pathogenic CNV 0 Pathogenic CNV

0 Decipher CNV overlap(s) (>= 70% only)

0 Benign CNV 0 Unknown CNV 0 Uncertain CNV 0 Pathogenic CNV

8 Gene(s) in SFARI Database

SEZ6L2 SFARI Location : 29,882,480 - 29,910,871 | Size : 28,391 bases
Whole gene

No data about Syndromicity

Gene Score : 2
Reports : 6

KCTD13 SFARI Location : 29,916,333 - 29,937,557 | Size : 21,224 bases
Whole gene

No data about Syndromicity

Gene Score : 2
Reports : 8

TAOK2 SFARI Location : 29,985,189 - 30,003,582 | Size : 18,393 bases
Whole gene

No data about Syndromicity

Gene Score : 2
Reports : 7

MAPK3 SFARI Location : 30,125,426 - 30,134,827 | Size : 9,401 bases
Whole gene

No data about Syndromicity

Gene Score : 2
Reports : 6

CORO1A SFARI Location : 30,194,148 - 30,200,397 | Size : 6,249 bases
Whole gene

No data about Syndromicity

Gene Score : 1
EAGLE Score : 0.7
Reports : 2

SRCAP SFARI Location : 30,709,530 - 30,752,730 | Size : 43,200 bases
Whole gene

No data about Syndromicity

Gene Score : 1
Reports : 8

SETD1A SFARI Location : 30,969,075 - 30,995,985 | Size : 26,910 bases
Whole gene

No data about Syndromicity

Gene Score : 1
EAGLE Score : 4.35
Reports : 7

BCKDK SFARI Location : 31,117,428 - 31,124,112 | Size : 6,684 bases
Whole gene

No data about Syndromicity

Gene Score : 1
EAGLE Score : 3.1
Reports : 6

0 DGV-Gold overlap(s) (>= 50% only)

0 DGV overlap(s) (>= 50% only)

0 Patient cases (>= 70% only)

0 Controls (>= 70% only)

38 Gene(s) in PanelApp Database

IL4R PanelApp Whole gene - Size : 51,110 bases

Confidence	Disease	Inheritance	Phenotype	Evidence
Low	COVID-19 research		- {AIDS, slow progression to} 609423	- OMIM
Low	Viral resistance	BIALLELIC, autosomal or pseudoautosomal	- {AIDS, slow progression to} 609423	- OMIM

IL21R PanelApp Whole gene - Size : 49,868 bases

Confidence	Disease	Inheritance	Phenotype	Evidence
Low	Severe multi-system atopic disease with high IgE		- [IgE, elevated level of], 147050Immunodeficiency, primary, autosomal recessive, IL21R-related, 615207	- Radboud University Medical Center, Nijmegen
High	COVID-19 research	BIALLELIC, autosomal or pseudoautosomal	- Immunodeficiency 56, OMIM:615207 - Atypical Severe Combined Immunodeficiency (Atypical SCID) - Combined immunodeficiency - Omenn syndrome - Recurrent infections, Pneumocystis jiroveci, Cryptosporidium infections and liver disease - Immunodeficiencies affecting cellular and humoral immunity	- IUIS Classification February 2018 - London North GLH - NHS GMS - GRID V2.0 - Victorian Clinical Genetics Services - North West GLH - ESID Registry 20171117 - Expert Review Green - NHS GMS - North West GLH - London North GLH - IUIS Classification February 2018 - Victorian Clinical Genetics Services - Expert Review Green - ESID Registry 20171117 - GRID V2.0
High	Primary immunodeficiency or monogenic inflammatory bowel disease	BIALLELIC, autosomal or pseudoautosomal	- Immunodeficiency 56, OMIM:615207	- Expert Review Green - Other - NHS GMS - North West GLH - London North GLH - IUIS Classification February 2018 - Victorian Clinical Genetics Services - ESID Registry 20171117 - GRID V2.0

ITGAL PanelApp Whole gene - Size : 50,909 bases

Confidence	Disease	Inheritance	Phenotype	Evidence
Low	COVID-19 research	Unknown		- Other - Literature

SRCAP PanelApp Whole gene - Size : 43,200 bases

Confidence	Disease	Inheritance	Phenotype	Evidence
High	IUGR and IGF abnormalities	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	- Floating-Harbor syndrome, 136140	- Expert Review Green - Emory Genetics Laboratory
Medium	Autism			- Expert Review Amber - SFARI
High	Fetal anomalies	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	- FLOATING-HARBOR SYNDROME	- PAGE DD-Gene2Phenotype - Expert Review Green
Low	Rare syndromic craniosynostosis or isolated multisuture synostosis	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted		- Literature
Low	Osteogenesis imperfecta		- Proportionate Short Stature/Small for Gestational Age	- Expert Review Removed - Emory Genetics Laboratory
High	DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	- FLOATING-HARBOR SYNDROME 136140	- DD-Gene2Phenotype - Expert Review Green
High	Growth failure in early childhood	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	- Floating Harbor - Floating-Harbor syndrome, 136140	- Expert list - Expert Review Green
High	Intellectual disability - microarray and sequencing	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	- Floating-Harbor syndrome, 136140 - FLOATING-HARBOR SYNDROME	- Victorian Clinical Genetics Services - Expert Review Green - Radboud University Medical Center, Nijmegen
High	Severe Paediatric Disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	- Floating-Harbor syndrome, 136140	- Next Generation Children Project - Expert Review Green - Expert list

ITGAM PanelApp Whole gene - Size : 72,925 bases

Confidence	Disease	Inheritance	Phenotype	Evidence
Medium	COVID-19 research	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	- Systemic lupus erythematous	- Expert Review Amber - GRID V2.0 - Victorian Clinical Genetics Services - Victorian Clinical Genetics Services - GRID V2.0
Low	Primary immunodeficiency or monogenic inflammatory bowel disease	Unknown	- Systemic lupus erythematous	- Expert Review Red - Victorian Clinical Genetics Services - GRID V2.0

CLN3 PanelApp Whole gene - Size : 21,464 bases

Confidence	Disease	Inheritance	Phenotype	Evidence
Low	Hyperammonaemia			- Emory Genetics Laboratory
Low	Glaucoma (developmental)		- Eye Disorders	- NHS GMS - Emory Genetics Laboratory
Low	Parkinson Disease and Complex Parkinsonism	BIALLELIC, autosomal or pseudoautosomal	- Ceroid lipofuscinosis, neuronal, 3 MIM#204200	- Expert list
High	Lysosomal storage disorder	BIALLELIC, autosomal or pseudoautosomal	- Ceroid lipofuscinosis, neuronal, 3 OMIM:204200 - neuronal ceroid lipofuscinosis 3 MONDO:0008767	- NHS GMS - Wessex and West Midlands GLH - Expert Review Green - North London GLH
High	Neuronal ceroid lipofuscinosis	BIALLELIC, autosomal or pseudoautosomal	- Ceroid lipofuscinosis, neuronal, 3 OMIM:204200 - neuronal ceroid lipofuscinosis 3 MONDO:0008767	- NHS GMS - London North GLH - Expert Review Green
High	Undiagnosed metabolic disorders	BIALLELIC, autosomal or pseudoautosomal	- Ceroid lipofuscinosis, neuronal, 3 204200	- Expert Review Green - Illumina TruGenome Clinical Sequencing Services - Radboud University Medical Center, Nijmegen - UKGTN - Emory Genetics Laboratory - Literature
High	Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	- Ceroid lipofuscinosis, neuronal, 3, 204200	- London North GLH - NHS GMS - Expert Review Green
Low	Fetal anomalies	BIALLELIC, autosomal or pseudoautosomal	- NEURONAL CEROID LIPOFUSCINOSIS TYPE 3	- Expert Review Red - PAGE DD-Gene2Phenotype
High	DDG2P	BIALLELIC, autosomal or pseudoautosomal	- NEURONAL CEROID LIPOFUSCINOSIS TYPE 3 204200	- DD-Gene2Phenotype - Expert Review Green
High	Early onset or syndromic epilepsy	BIALLELIC, autosomal or pseudoautosomal	- Ceroid lipofuscinosis, neuronal, 3 204200	- Wessex and West Midlands GLH - NHS GMS - Expert Review Green - Victorian Clinical Genetics Services - Expert
High	Intellectual disability - microarray and sequencing	BIALLELIC, autosomal or pseudoautosomal	- Ceroid lipofuscinosis, neuronal, 3, 204200 - NEURONAL CEROID LIPOFUSCINOSIS TYPE 3 (CLN3)	- Victorian Clinical Genetics Services - Expert Review Green - Radboud University Medical Center, Nijmegen
High	Retinal disorders	BIALLELIC, autosomal or pseudoautosomal	- Eye Disorders - Retinitis pigmentosa	- NHS GMS - Expert Review Green
Low	Structural eye disease	BIALLELIC, autosomal or pseudoautosomal	- Ceroid lipofuscinosis, neuronal, 3, 204200 - Eye Disorders	- NHS GMS - Expert Review Red
High	Childhood onset dystonia, chorea or related movement disorder	BIALLELIC, autosomal or pseudoautosomal	- Ceroid lipofuscinosis, neuronal, 3, 204200	- Expert Review Green - London North GLH
High	Severe Paediatric Disorders	BIALLELIC, autosomal or pseudoautosomal	- Ceroid lipofuscinosis, neuronal, 3, 204200	- Next Generation Children Project - Expert Review Green - Expert list
High	Severe Paediatric Disorders	BIALLELIC, autosomal or pseudoautosomal	- Ceroid lipofuscinosis, neuronal, 3, 204200	- Next Generation Children Project - Expert Review Green - Expert list

ATXN2L PanelApp Whole gene - Size : 14,238 bases

Confidence	Disease	Inheritance	Phenotype	Evidence
Medium	Intellectual disability - microarray and sequencing	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	- Intellectual disability - Macrocephaly	- Expert Review Amber - Literature

TUFM PanelApp Whole gene - Size : 3,937 bases

Confidence	Disease	Inheritance	Phenotype	Evidence
High	White matter disorders and cerebral calcification - narrow panel	BIALLELIC, autosomal or pseudoautosomal	- Mitochondrial Leukoencephalopathy - Combined oxidative phosphorylation deficiency 4, OMIM:610678	- Expert Review Green - NHS GMS
Medium	Inherited white matter disorders	BIALLELIC, autosomal or pseudoautosomal	- Mitochondrial Leukoencephalopathy	- Expert Review Amber - Expert list
High	Undiagnosed metabolic disorders	BIALLELIC, autosomal or pseudoautosomal	- Required for mitochondrial gene expression (Mitochondrial respiratory chain disorders (caused by nuclear variants only)) - Combined oxidative phosphorylation deficiency 4 610678	- Expert Review Green - Literature
High	Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	- Required for mitochondrial gene expression (Mitochondrial respiratory chain disorders (caused by nuclear variants only)) - Multiple respiratory chain complex deficiencies (disorders of protein synthesis) - Combined oxidative phosphorylation deficiency 4 610678 - Combined oxidative phosphorylation deficiency 4, 610678	- Expert Review Green - Expert Review Green - London North GLH - NHS GMS - Victorian Clinical Genetics Services
High	Possible mitochondrial disorder - nuclear genes	BIALLELIC, autosomal or pseudoautosomal	- Combined oxidative phosphorylation deficiency 4, 610678	- Expert Review Green - NHS GMS
Medium	Fetal anomalies	BIALLELIC, autosomal or pseudoautosomal	- COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 4	- Expert Review Amber - PAGE DD-Gene2Phenotype
High	DDG2P	BIALLELIC, autosomal or pseudoautosomal	- COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 4 610678	- Expert Review Green - DD-Gene2Phenotype
Low	Intellectual disability - microarray and sequencing	BIALLELIC, autosomal or pseudoautosomal	- Combined oxidative phosphorylation deficiency 4, 610678	- Expert Review Red
High	Mitochondrial disorders	BIALLELIC, autosomal or pseudoautosomal	- Combined oxidative phosphorylation deficiency 4 610678	- Expert Review Green - Victorian Clinical Genetics Services - Radboud University Medical Center, Nijmegen - Expert list - Expert
Low	Childhood onset dystonia, chorea or related movement disorder			- Expert Review Red - London North GLH
High	Severe Paediatric Disorders	BIALLELIC, autosomal or pseudoautosomal	- Combined oxidative phosphorylation deficiency 4, 610678	- Next Generation Children Project - Expert Review Green - Expert list

SH2B1 PanelApp Whole gene - Size : 27,612 bases

Confidence	Disease	Inheritance	Phenotype	Evidence
Medium	Severe early-onset obesity	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	- obesity - Severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiency, MONDO:0017994	- Expert Review Amber - Expert list

ATP2A1 PanelApp Whole gene - Size : 26,061 bases

Confidence	Disease	Inheritance	Phenotype	Evidence
High	Skeletal Muscle Channelopathies	BIALLELIC, autosomal or pseudoautosomal	- Brody myopathy 601003	- Expert Review Green - Expert list
Low	Other rare neuromuscular disorders	BIALLELIC, autosomal or pseudoautosomal	- Brody myopathy, 601003 - Brody Myopathy	- Expert Review Red
Low	Paroxysmal central nervous system disorders	BIALLELIC, autosomal or pseudoautosomal	- Brody myopathy, 601003	- Expert Review Red - NHS GMS - London North GLH - Wessex and West Midlands GLH
Low	Arthrogryposis	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	- Brody Myopathy - Brody myopathy, 601003	- Expert Review Red - Illumina TruGenome Clinical Sequencing Services - Emory Genetics Laboratory - Radboud University Medical Center, Nijmegen
Low	Congenital myopathy	BIALLELIC, autosomal or pseudoautosomal	- Brody myopathy, OMIM:601003	- Expert Review Red - Radboud University Medical Center, Nijmegen - Emory Genetics Laboratory - Illumina TruGenome Clinical Sequencing Services
High	Skeletal muscle channelopathy	BIALLELIC, autosomal or pseudoautosomal	- Brody myopathy OMIM:601003	- NHS GMS - Expert Review Green - London North GLH
Low	Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies	BIALLELIC, autosomal or pseudoautosomal	- Brody myopathy, 601003	- Expert Review Red - NHS GMS - Yorkshire and North East GLH - Expert Review
High	Severe Paediatric Disorders	BIALLELIC, autosomal or pseudoautosomal	- Brody myopathy, 601003	- Next Generation Children Project - Expert Review Green - Expert list
High	Severe Paediatric Disorders	BIALLELIC, autosomal or pseudoautosomal	- Brody myopathy, 601003	- Next Generation Children Project - Expert Review Green - Expert list

CD19 PanelApp Whole gene - Size : 7,377 bases

Confidence	Disease	Inheritance	Phenotype	Evidence
High	COVID-19 research	BIALLELIC, autosomal or pseudoautosomal	- Immunodeficiency, common variable, 3 - Isolated IgG subclass deficiency - Recurrent infections, may have glomerulonephritis - Immunodeficiency, common variable, 3 613493 - Common variable immunodeficiency disorders (CVID) - Predominantly Antibody Deficiencies - hypogammaglobulinemia	- IUIS Classification February 2018 - A- or hypo-gammaglobulinaemia v1.25 - London North GLH - NHS GMS - GRID V2.0 - Victorian Clinical Genetics Services - North West GLH - ESID Registry 20171117 - Expert Review Green - NHS GMS - North West GLH - London North GLH - IUIS Classification February 2018 - Victorian Clinical Genetics Services - Expert Review Green - ESID Registry 20171117 - GRID V2.0 - A- or hypo-gammaglobulinaemia v1.25
High	Primary immunodeficiency or monogenic inflammatory bowel disease	BIALLELIC, autosomal or pseudoautosomal	- Immunodeficiency, common variable, 3 613493 - hypogammaglobulinemia - Immunodeficiency, common variable, 3 - Common variable immunodeficiency disorders (CVID) - Isolated IgG subclass deficiency - Recurrent infections, may have glomerulonephritis - Predominantly Antibody Deficiencies	- NHS GMS - North West GLH - London North GLH - IUIS Classification February 2018 - Victorian Clinical Genetics Services - Expert Review Green - ESID Registry 20171117 - GRID V2.0 - A- or hypo-gammaglobulinaemia v1.25
High	Severe Paediatric Disorders	BIALLELIC, autosomal or pseudoautosomal	- Immunodeficiency, common variable, 3, 613493	- Next Generation Children Project - Expert Review Green - Expert list
High	Severe Paediatric Disorders	BIALLELIC, autosomal or pseudoautosomal	- Immunodeficiency, common variable, 3, 613493	- Next Generation Children Project - Expert Review Green - Expert list
High	Severe Paediatric Disorders	BIALLELIC, autosomal or pseudoautosomal	- Immunodeficiency, common variable, 3, 613493	- Next Generation Children Project - Expert Review Green - Expert list

LAT PanelApp Whole gene - Size : 5,958 bases

Confidence	Disease	Inheritance	Phenotype	Evidence
High	COVID-19 research	BIALLELIC, autosomal or pseudoautosomal	- Immunodeficiencies affecting cellular and humoral immunity - Immunodeficiency 52, 617514 - Adenopathy, splenomegaly, recurrent infections, autoimmunity	- IUIS Classification February 2018 - SCID v1.6 - A- or hypo-gammaglobulinaemia v1.25 - London North GLH - NHS GMS - North West GLH - Combined B and T cell defect v1.12 - Expert Review Green - NHS GMS - North West GLH - London North GLH - Expert Review Green - IUIS Classification February 2018 - SCID v1.6 - Combined B and T cell defect v1.12 - A- or hypo-gammaglobulinaemia v1.25
Medium	Inherited bleeding disorders	BIALLELIC, autosomal or pseudoautosomal	- Immunodeficiency 52, 617514	- Expert Review Amber - Other
High	Primary immunodeficiency or monogenic inflammatory bowel disease	BIALLELIC, autosomal or pseudoautosomal	- Immunodeficiency 52, 617514 - Adenopathy, splenomegaly, recurrent infections, autoimmunity - Immunodeficiencies affecting cellular and humoral immunity	- Expert Review Green - Other - NHS GMS - North West GLH - London North GLH - IUIS Classification February 2018 - SCID v1.6 - Combined B and T cell defect v1.12 - A- or hypo-gammaglobulinaemia v1.25
Medium	Cytopenias and congenital anaemias	BIALLELIC, autosomal or pseudoautosomal	- Immunodeficiency 52, 617514	- Expert Review Amber - Other
Medium	Cytopenia - NOT Fanconi anaemia	BIALLELIC, autosomal or pseudoautosomal	- Immunodeficiency 52, 617514	- North West GLH - NHS GMS - Expert Review Amber - Wessex and West Midlands GLH
High	Severe Paediatric Disorders	BIALLELIC, autosomal or pseudoautosomal	- Immunodeficiency 52, 617514	- Next Generation Children Project - Expert Review Green - Expert list

BOLA2 PanelApp Whole gene - Size : 761 bases

Confidence	Disease	Inheritance	Phenotype	Evidence
Low	Likely inborn error of metabolism - targeted testing not possible	Unknown	- No OMIM phenotype	- Expert Review Red
Low	Mitochondrial disorders		- No OMIM phenotype	- Expert Review Red - Radboud University Medical Center, Nijmegen

KIF22 PanelApp Whole gene - Size : 14,658 bases

Confidence	Disease	Inheritance	Phenotype	Evidence
High	Skeletal dysplasia	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	- Spondyloepimetaphyseal dysplasia with joint laxity, type 2 603546	- NHS GMS - Expert Review Green - Radboud University Medical Center, Nijmegen - Emory Genetics Laboratory - Expert list - UKGTN -
High	Fetal anomalies	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	- SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 2	- PAGE DD-Gene2Phenotype - Expert Review Green
Low	Osteogenesis imperfecta		- Disproportionate Short Stature	- Expert Review Removed - Emory Genetics Laboratory
High	DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	- SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 2 603546	- DD-Gene2Phenotype - Expert Review Green
Low	Clefting	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	- Spondyloepimetaphyseal dysplasia with joint laxity, type 2, 603546 - SEMDJL2	- Expert Review Red
Low	Intellectual disability - microarray and sequencing	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	- Spondyloepimetaphyseal dysplasia with joint laxity, type 2, 603546	- Expert Review Red - BRIDGE study SPEED NEURO Tier1 Gene

PRRT2 PanelApp Whole gene - Size : 4,510 bases

Confidence	Disease	Inheritance	Phenotype	Evidence
High	Brain channelopathy	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	- CONVULSIONS, FAMILIAL INFANTILE, WITH PAROXYSMAL CHOREOATHETOSIS - EPISODIC KINESIGENIC DYSKINESIA 1 - SEIZURES, BENIGN FAMILIAL INFANTILE, 2 - episodic kinesigenic dyskinesia - dystonia and occasionally hemiplegic migraine and epilepsy	- Expert Review Green - UKGTN - Eligibility statement prior genetic testing
High	Early onset dystonia	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	- Episodic kinesigenic dyskinesia 1, 128200 - Paroxysmal kinesigenic choreoathetosis (PKD1) and infantile convulsions	- Expert Review Green - Expert - Emory Genetics Laboratory - Radboud University Medical Center, Nijmegen - UKGTN
High	Ataxia and cerebellar anomalies - narrow panel	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	- Convulsions, familial infantile, with paroxysmal choreoathetosis, 602066 - Episodic kinesigenic dyskinesia 1, 128200 - Seizures, benign familial infantile, 2, 605751	- Expert Review Green
High	Hereditary ataxia	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	- Convulsions, familial infantile, with paroxysmal choreoathetosis, 602066 - Episodic kinesigenic dyskinesia 1, 128200 - Seizures, benign familial infantile, 2, 605751	- Expert Review Green - UKGTN
High	Paroxysmal central nervous system disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	- Seizures, benign familial infantile, 2, 605751 - dystonia and occasionally hemiplegic migraine and epilepsy - Episodic kinesigenic dyskinesia 1, 128200 - Convulsions, familial infantile, with paroxysmal choreoathetosis, 602066	- Expert Review Green - NHS GMS - London North GLH - Wessex and West Midlands GLH
Low	Adult onset neurodegenerative disorder	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	- dystonia and occasionally hemiplegic migraine and epilepsy - episodic kinesigenic dyskinesia - EPISODIC KINESIGENIC DYSKINESIA 1 - CONVULSIONS, FAMILIAL INFANTILE, WITH PAROXYSMAL CHOREOATHETOSIS - Paroxysmal kinesigenic choreoathetosis (PKD1) and infantile convulsions - SEIZURES, BENIGN FAMILIAL INFANTILE, 2 - Episodic kinesigenic dyskinesia 1, 128200	- Expert Review Red - Wessex and West Midlands GLH - Yorkshire and North East GLH - NHS GMS - London North GLH
Low	Fetal anomalies	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	- BENIGN FAMILIAL INFANTILE EPILEPSY AND INFANTILE CONVULSIONS WITH CHOREOATHETOSIS SYNDROME - AUTOSOMAL RECESSIVE MENTAL RETARDATION	- Expert Review Red - PAGE DD-Gene2Phenotype
High	DDG2P	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	- AUTOSOMAL RECESSIVE MENTAL RETARDATION - BENIGN FAMILIAL INFANTILE EPILEPSY AND INFANTILE CONVULSIONS WITH CHOREOATHETOSIS SYNDROME 602066	- DD-Gene2Phenotype - Expert Review Green
High	Early onset or syndromic epilepsy	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	- Convulsions, familial infantile, with paroxysmal choreoathetosis - Episodic kinesigenic dyskinesia 1 - Seizures, benign familial infantile, 2 - BENIGN FAMILIAL INFANTILE EPILEPSY AND INFANTILE CONVULSIONS WITH CHOREOATHETOSIS SYNDROME	- Wessex and West Midlands GLH - NHS GMS - NIHRBR-RD Consortium SPEED_v3.0_20170404 - Victorian Clinical Genetics Services - Expert Review Green - UKGTN - Expert
Medium	Intellectual disability - microarray and sequencing	BIALLELIC, autosomal or pseudoautosomal	- Epilepsy - mental retardation - movement disorders - paroxysmal disorder - Autosomal recessive mental retardation	- Expert Review Amber
High	Hereditary ataxia with onset in adulthood	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	- CONVULSIONS, FAMILIAL INFANTILE, WITH PAROXYSMAL CHOREOATHETOSIS - SEIZURES, BENIGN FAMILIAL INFANTILE, 2 - EPISODIC KINESIGENIC DYSKINESIA 1 - Familial infantile convulsions with paroxysmal dyskinesia 1, 602066 - dystonia and occasionally hemiplegic migraine and epilepsy - episodic kinesigenic dyskinesia - episodic kinesigenic dyskinesia, 128200	- London North GLH - NHS GMS - Wessex and West Midlands GLH - Expert Review Green - Brain channelopathy v1.46 - Hereditary ataxia v1.148
High	Adult onset dystonia, chorea or related movement disorder	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	- Episodic kinesigenic dyskinesia 1, OMIM:128200 - Convulsions, familial infantile, with paroxysmal choreoathetosis, OMIM:602066	- NHS GMS - London North GLH - Expert Review Green
High	Childhood onset dystonia, chorea or related movement disorder	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	- Convulsions, familial infantile, with paroxysmal choreoathetosis, 602066 - Episodic kinesigenic dyskinesia 1, 128200 - dystonia and occasionally hemiplegic migraine and epilepsy - Paroxysmal kinesigenic choreoathetosis (PKD1) and infantile convulsions - episodic kinesigenic dyskinesia	- PanelApp - Expert Review Green - London North GLH
High	Childhood onset dystonia, chorea or related movement disorder	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	- Convulsions, familial infantile, with paroxysmal choreoathetosis, 602066 - Episodic kinesigenic dyskinesia 1, 128200 - dystonia and occasionally hemiplegic migraine and epilepsy - Paroxysmal kinesigenic choreoathetosis (PKD1) and infantile convulsions - episodic kinesigenic dyskinesia	- PanelApp - Expert Review Green - London North GLH
High	Childhood onset dystonia, chorea or related movement disorder	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	- Convulsions, familial infantile, with paroxysmal choreoathetosis, 602066 - Episodic kinesigenic dyskinesia 1, 128200 - dystonia and occasionally hemiplegic migraine and epilepsy - Paroxysmal kinesigenic choreoathetosis (PKD1) and infantile convulsions - episodic kinesigenic dyskinesia	- PanelApp - Expert Review Green - London North GLH
High	Recurrent episodic apnoea	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	- Convulsions, familial infantile, with paroxysmal choreoathetosis, OMIM:602066 - infantile convulsions and choreoathetosis, MONDO:0011178 - Episodic kinesigenic dyskinesia 1, OMIM:128200 - episodic kinesigenic dyskinesia 1, MONDO:0100352 - Seizures, benign familial infantile, 2, OMIM: 605751 - seizures, benign familial infantile, 2, MONDO:0011593	- Expert Review Green - Expert list

SEZ6L2 PanelApp Whole gene - Size : 28,391 bases

Confidence	Disease	Inheritance	Phenotype	Evidence
Low	Autism			- Expert Review Red - SFARI

KCTD13 PanelApp Whole gene - Size : 21,224 bases

Confidence	Disease	Inheritance	Phenotype	Evidence
Low	Autism			- Expert Review Red - SFARI

TAOK2 PanelApp Whole gene - Size : 18,393 bases

Confidence	Disease	Inheritance	Phenotype	Evidence
Medium	Autism			- Expert Review Amber - SFARI

ALDOA PanelApp Whole gene - Size : 6,293 bases

Confidence	Disease	Inheritance	Phenotype	Evidence
High	Ketotic hypoglycaemia	BIALLELIC, autosomal or pseudoautosomal	- Glycogen storage disease XII, 611881 - Glycogen Storage Disease	- Expert Review Green - Radboud University Medical Center, Nijmegen - UKGTN
High	Rhabdomyolysis and metabolic muscle disorders	BIALLELIC, autosomal or pseudoautosomal	- Glycogen storage disease XII, OMIM:611881	- Expert Review Green - Illumina TruGenome Clinical Sequencing Services - Radboud University Medical Center, Nijmegen - UKGTN
High	Other rare neuromuscular disorders	BIALLELIC, autosomal or pseudoautosomal	- Glycogen storage disease XII	- Expert Review Green
High	Glycogen storage disease	BIALLELIC, autosomal or pseudoautosomal	- Glycogen storage disease XII 611881	- NHS GMS - Wessex and West Midlands GLH - London North GLH - Expert Review Green
High	Cytopenias and congenital anaemias	BIALLELIC, autosomal or pseudoautosomal	- Enzyme Disorder - Glycogen storage disease - Glycogen storage disease XII, 611881 - Aldolase A deficiency - Glycogen storage disease due to aldolase A deficiency	- Expert Review Green - Radboud University Medical Center, Nijmegen - Illumina TruGenome Clinical Sequencing Services - BRIDGE consortium (NIHRBR-RD)
High	Rare anaemia	BIALLELIC, autosomal or pseudoautosomal	- Glycogen storage disease due to aldolase A deficiency - 611881 Aldolase A deficiency - Enzyme Disorder - Aldolase A deficiency - Glycogen storage disease XII, 611881 - 611881 Glycogen storage disease XII - Glycogen storage disease	- North West GLH - Yorkshire and North East GLH - London South GLH - NHS GMS - Expert Review Green - Wessex and West Midlands GLH
High	Undiagnosed metabolic disorders	BIALLELIC, autosomal or pseudoautosomal	- Aldolase A deficiency (Glycogen storage disorders) - Glycogen storage disease XII, 611881 - Glycogen Storage Disease	- Expert Review Green - Literature
High	Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	- Glycogen Storage Disease - Aldolase A deficiency (Glycogen storage disorders) - Glycogen storage disease XII, 611881	- London North GLH - NHS GMS - Expert Review Green
High	Fetal anomalies	BIALLELIC, autosomal or pseudoautosomal	- GLYCOGEN STORAGE DISEASE XII	- PAGE DD-Gene2Phenotype - Expert Review Green
High	DDG2P	BIALLELIC, autosomal or pseudoautosomal	- GLYCOGEN STORAGE DISEASE XII 611881	- DD-Gene2Phenotype - Expert Review Green
Medium	Intellectual disability - microarray and sequencing	BIALLELIC, autosomal or pseudoautosomal	- Gene2Phenotype confirmed gene with ID HPO	- Expert Review Amber - Expert Review Amber - BRIDGE study SPEED NEURO Tier1 Gene
High	Acute rhabdomyolysis	BIALLELIC, autosomal or pseudoautosomal	- Glycogen storage disease XII, OMIM:611881	- NHS GMS - Expert Review Green

TBX6 PanelApp Whole gene - Size : 6,131 bases

Confidence	Disease	Inheritance	Phenotype	Evidence
Low	Familial Neural Tube Defects		- Spondylocostal Dysostosis	- UKGTN
High	Skeletal dysplasia	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	- Spondylocostal dysostosis 5 122600 - Spondylocostal dysostosis 5 122600	- NHS GMS - Expert Review Green -
High	Fetal anomalies	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	- Spondylocostal dysostosis 5 122600	- PAGE Additional Gene List - Expert Review Green
High	Severe Paediatric Disorders	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	- Spondylocostal dysostosis 5, 122600	- Next Generation Children Project - Expert Review Green - Expert list

MAPK3 PanelApp Whole gene - Size : 9,401 bases

Confidence	Disease	Inheritance	Phenotype	Evidence
Low	Autism			- Expert Review Red - SFARI

CORO1A PanelApp Whole gene - Size : 6,249 bases

Confidence	Disease	Inheritance	Phenotype	Evidence
High	COVID-19 research	BIALLELIC, autosomal or pseudoautosomal	- Combined immunodeficiency - Immunodeficiency 8 - hypogammaglobulinaemia, combined immunodeficiency - Coronin-1A deficiency - Atypical Severe Combined Immunodeficiency (Atypical SCID) - Detectable thymus, EBV - Immunodeficiencies affecting cellular and humoral immunity - Omenn syndrome - Severe combined immunodeficiency (SCID)	- IUIS Classification February 2018 - London North GLH - GOSH PID v.8.0 - NHS GMS - GRID V2.0 - Victorian Clinical Genetics Services - North West GLH - ESID Registry 20171117 - Combined B and T cell defect v1.12 - Expert Review Green - NHS GMS - North West GLH - London North GLH - IUIS Classification February 2018 - Victorian Clinical Genetics Services - Expert Review Green - ESID Registry 20171117 - GRID V2.0 - GOSH PID v.8.0 - Combined B and T cell defect v1.12
Medium	Epidermodysplasia verruciformis	BIALLELIC, autosomal or pseudoautosomal		- Expert Review Amber
High	Primary immunodeficiency or monogenic inflammatory bowel disease	BIALLELIC, autosomal or pseudoautosomal	- Immunodeficiency 8 - Combined immunodeficiency - hypogammaglobulinaemia, combined immunodeficiency - Coronin-1A deficiency - Atypical Severe Combined Immunodeficiency (Atypical SCID) - Severe combined immunodeficiency (SCID) - Omenn syndrome - Detectable thymus, EBV - Immunodeficiencies affecting cellular and humoral immunity	- Expert Review Green - Other - NHS GMS - North West GLH - London North GLH - IUIS Classification February 2018 - Victorian Clinical Genetics Services - ESID Registry 20171117 - GRID V2.0 - GOSH PID v.8.0 - Combined B and T cell defect v1.12
High	Severe Paediatric Disorders	BIALLELIC, autosomal or pseudoautosomal	- Immunodeficiency 8, 615401	- Next Generation Children Project - Expert Review Green - Expert list
High	Severe Paediatric Disorders	BIALLELIC, autosomal or pseudoautosomal	- Immunodeficiency 8, 615401	- Next Generation Children Project - Expert Review Green - Expert list

FBRS PanelApp Whole gene - Size : 12,379 bases

Confidence	Disease	Inheritance	Phenotype	Evidence
Low	COVID-19 research	Unknown		- Literature
Low	Primary immunodeficiency or monogenic inflammatory bowel disease	Unknown	- primary immunodeficiency	- Literature

PHKG2 PanelApp Whole gene - Size : 12,883 bases

Confidence	Disease	Inheritance	Phenotype	Evidence
High	Ketotic hypoglycaemia	BIALLELIC, autosomal or pseudoautosomal	- hepatomegaly and variable myopathy - Glycogen storage disease IXc, 613027 - Cirrhosis due to liver phosphorylase kinase deficiency - Glycogen Storage Disorders- Liver - Glycogen Storage Disease	- Expert Review Green - UKGTN - Emory Genetics Laboratory - Radboud University Medical Center, Nijmegen - Literature
High	Glycogen storage disease	BIALLELIC, autosomal or pseudoautosomal	- Glycogen storage disease IXc 613027	- NHS GMS - Wessex and West Midlands GLH - London North GLH - Expert Review Green
High	Undiagnosed metabolic disorders	BIALLELIC, autosomal or pseudoautosomal	- Glycogen storage disease type IX Hepatic phosphorylase kinase deficiency with cirrhosis (Glycogen storage disorders) - hepatomegaly and variable myopathy - Glycogen storage disease IXc, 613027 - Cirrhosis due to liver phosphorylase kinase deficiency - Glycogen Storage Disorders- Liver - Glycogen Storage Disease	- Expert Review Green - Literature
High	Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	- hepatomegaly and variable myopathy - Glycogen Storage Disorders- Liver - Glycogen Storage Disease - Glycogen storage disease IXc, 613027 - Glycogen storage disease type IX Hepatic phosphorylase kinase deficiency with cirrhosis (Glycogen storage disorders) - Cirrhosis due to liver phosphorylase kinase deficiency	- London North GLH - NHS GMS - Expert Review Green
Low	Intellectual disability - microarray and sequencing			- Victorian Clinical Genetics Services
Low	Childhood onset dystonia, chorea or related movement disorder			- Expert Review Red - London North GLH
Low	Childhood onset dystonia, chorea or related movement disorder			- Expert Review Red - London North GLH

CTF1 PanelApp Whole gene - Size : 6,933 bases

Confidence	Disease	Inheritance	Phenotype	Evidence
Low	Dilated Cardiomyopathy and conduction defects	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted		- South West GLH - Expert list - Illumina TruGenome Clinical Sequencing Services
Low	Paediatric or syndromic cardiomyopathy	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown		- NHS GMS - South West GLH - Expert Review Red

SETD1A PanelApp Whole gene - Size : 26,910 bases

Confidence	Disease	Inheritance	Phenotype	Evidence
Medium	Fetal anomalies	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	- INTELLECTUAL DISABILITY	- Expert Review Amber - PAGE DD-Gene2Phenotype
High	DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	- INTELLECTUAL DISABILITY	- Expert Review Green - DD-Gene2Phenotype
High	Early onset or syndromic epilepsy	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	- Epilepsy, early-onset, with or without developmental delay, 618832	- Expert Review Green - Expert list
High	Intellectual disability - microarray and sequencing	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	- Neurodevelopmental disorder with speech impairment and dysmorphic facies, 619056 - Epilepsy, early-onset, with or without developmental delay, 618832	- Expert Review Green

HSD3B7 PanelApp Whole gene - Size : 3,940 bases

Confidence	Disease	Inheritance	Phenotype	Evidence
High	Neonatal cholestasis	BIALLELIC, autosomal or pseudoautosomal	- Neonatal and Adult Cholestasis - Bile acid sythesis defect, congenital, 1 607765	- Expert Review Green - Victorian Clinical Genetics Services - UKGTN - Emory Genetics Laboratory
High	Cholestasis	BIALLELIC, autosomal or pseudoautosomal	- Bile acid sythesis defect, congenital, 1 607765 - Neonatal and Adult Cholestasis	- Expert Review Green - Other - NHS GMS
High	Undiagnosed metabolic disorders	BIALLELIC, autosomal or pseudoautosomal	- 3- ?-hydroxysterol ?5-oxidoreductase/isomerase deficiency (Disorders of bile acid biosynthesis) - Bile acid synthesis defect, congenital, 1, 607765	- Expert Review Green - Literature
High	Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	- 3- ?-hydroxysterol ?5-oxidoreductase/isomerase deficiency (Disorders of bile acid biosynthesis) - Bile acid synthesis defect, congenital, 1, 607765	- London North GLH - NHS GMS - Expert Review Green
Low	Fetal anomalies	BIALLELIC, autosomal or pseudoautosomal	- BILE ACID SYNTHESIS DEFECT, CONGENITAL, 1	- Expert Review Red - PAGE DD-Gene2Phenotype
High	DDG2P	BIALLELIC, autosomal or pseudoautosomal	- BILE ACID SYNTHESIS DEFECT, CONGENITAL, 1 607765	- DD-Gene2Phenotype - Expert Review Green
Low	Intellectual disability - microarray and sequencing	BIALLELIC, autosomal or pseudoautosomal	- Bile acid synthesis defect, congenital, 1, 607765	- Expert Review Red - BRIDGE study SPEED NEURO Tier1 Gene
Low	Childhood onset dystonia, chorea or related movement disorder			- Expert Review Red - London North GLH

STX1B PanelApp Whole gene - Size : 21,382 bases

Confidence	Disease	Inheritance	Phenotype	Evidence
Medium	Fetal anomalies	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	- GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 9	- Expert Review Amber - PAGE DD-Gene2Phenotype
High	DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	- GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 9 616172	- Expert Review Green - DD-Gene2Phenotype
High	Early onset or syndromic epilepsy	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	- Generalized epilepsy with febrile seizures plus, type 9, 616172	- Wessex and West Midlands GLH - NHS GMS - NIHRBR-RD Consortium SPEED_v3.0_20170404 - Victorian Clinical Genetics Services - Expert Review - Expert Review Green
High	Intellectual disability - microarray and sequencing	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	- GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 9	- Victorian Clinical Genetics Services - Expert Review Green
High	Severe Paediatric Disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	- Generalized epilepsy with febrile seizures plus, type 9, 616172	- Next Generation Children Project - Expert Review Green - Expert list
High	Severe Paediatric Disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	- Generalized epilepsy with febrile seizures plus, type 9, 616172	- Next Generation Children Project - Expert Review Green - Expert list

STX4 PanelApp Whole gene - Size : 10,086 bases

Confidence	Disease	Inheritance	Phenotype	Evidence
Medium	Monogenic hearing loss	BIALLELIC, autosomal or pseudoautosomal	- Hearing impairment, HP:0000365	- Expert Review Amber - Literature

ZNF668 PanelApp Whole gene - Size : 13,397 bases

Confidence	Disease	Inheritance	Phenotype	Evidence
Medium	Severe microcephaly	BIALLELIC, autosomal or pseudoautosomal	- DNA damage repair defect - microcephaly - growth deficiency - severe global developmental delay - brain malformation - facial dysmorphism	- Literature - Expert Review Amber
Medium	Growth failure in early childhood	BIALLELIC, autosomal or pseudoautosomal	- DNA damage repair defect - microcephaly - growth deficiency - severe global developmental delay - brain malformation - facial dysmorphism	- Literature - Expert Review Amber
Medium	Intellectual disability - microarray and sequencing	BIALLELIC, autosomal or pseudoautosomal	- DNA damage repair defect - microcephaly - growth deficiency - severe global developmental delay - brain malformation - facial dysmorphism	- Expert Review Amber - Literature

VKORC1 PanelApp Whole gene - Size : 5,138 bases

Confidence	Disease	Inheritance	Phenotype	Evidence
High	Inherited bleeding disorders	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	- Vitamin K-dependent clotting factors, combined deficiency of, 2, OMIM:607473	- Expert Review Green - BRIDGE Study Tier 1 Gene
High	Bleeding and platelet disorders	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	- Vitamin K-dependent clotting factors, combined deficiency of, 2, OMIM:607473 - Warfarin resistance, OMIM:122700	- North West GLH - Yorkshire and North East GLH - London South GLH - NHS GMS - Expert Review Green - Wessex and West Midlands GLH
High	Undiagnosed metabolic disorders	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	- Vitamin K-dependent clotting factors, combined deficiency of, 2, OMIM:607473	- Expert Review Green - Literature
High	Likely inborn error of metabolism - targeted testing not possible	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	- Vitamin K-dependent clotting factors, combined deficiency of, 2, OMIM:607473	- Expert Review Green - London North GLH - NHS GMS
Low	Childhood onset dystonia, chorea or related movement disorder			- Expert Review Red - London North GLH
High	Severe Paediatric Disorders	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	- Vitamin K-dependent clotting factors, combined deficiency of, 2, 607473 - Warfarin resistance, 122700	- Next Generation Children Project - Expert Review Green - Expert list
High	Combined vitamin K-dependent clotting factor deficiency	BIALLELIC, autosomal or pseudoautosomal		- NHS GMS - Expert Review Green

BCKDK PanelApp Whole gene - Size : 6,684 bases

Confidence	Disease	Inheritance	Phenotype	Evidence
Medium	Autism			- Expert Review Amber - SFARI
High	Undiagnosed metabolic disorders	BIALLELIC, autosomal or pseudoautosomal	- Branched-chain ketoacid dehydrogenase kinase deficiency 614923	- Expert Review Green - Emory Genetics Laboratory - Radboud University Medical Center, Nijmegen - Literature
High	Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	- Branched-chain ketoacid dehydrogenase kinase deficiency	- Expert Review Green
High	Intellectual disability - microarray and sequencing	BIALLELIC, autosomal or pseudoautosomal	- Branched-chain ketoacid dehydrogenase kinase deficiency, 614923 - Intellectual disability	- Victorian Clinical Genetics Services - Expert Review Green - Literature
High	Severe Paediatric Disorders	BIALLELIC, autosomal or pseudoautosomal	- Branched-chain ketoacid dehydrogenase kinase deficiency, 614923	- Next Generation Children Project - Expert Review Green - Expert list

KAT8 PanelApp Whole gene - Size : 16,904 bases

Confidence	Disease	Inheritance	Phenotype	Evidence
High	Early onset or syndromic epilepsy	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	- Li-Ghorgani-Weisz-Hubshman syndrome, OMIM:618974 - Global developmental delay - Intellectual disability - Seizures - Abnormality of vision - Feeding difficulties - Abnormality of the cardiovascular system - Autism	- NHS GMS - Expert Review Green - Literature
High	Intellectual disability - microarray and sequencing	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	- Li-Ghorgani-Weisz-Hubshman syndrome, OMIM:618974 - Global developmental delay - Intellectual disability - Seizures - Abnormality of vision - Feeding difficulties - Abnormality of the cardiovascular system - Autism	- NHS GMS - Expert Review Green - Literature

FUS PanelApp Whole gene - Size : 11,467 bases

Confidence	Disease	Inheritance	Phenotype	Evidence
Low	Early onset dementia (encompassing fronto-temporal dementia and prion disease)		- Dementia	- Expert Review Red - UKGTN
High	Adult onset neurodegenerative disorder	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	- Amyotrophic lateral sclerosis 6, with or without frontotemporal dementia, OMIM:608030	- Wessex and West Midlands GLH - Yorkshire and North East GLH - NHS GMS - London North GLH - Expert Review Green
High	Amyotrophic lateral sclerosis/motor neuron disease	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	- Amyotrophic lateral sclerosis 6, autosomal recessive, with or without frontotemporal - Amyotrophic Lateral Sclerosis, Dominant	- Expert Review Green - Expert - Illumina TruGenome Clinical Sequencing Services - UKGTN - Radboud University Medical Center, Nijmegen

PYCARD PanelApp Whole gene - Size : 1,964 bases

Confidence	Disease	Inheritance	Phenotype	Evidence
Low	COVID-19 research	Unknown		- Literature

COX6A2 PanelApp Whole gene - Size : 629 bases

Confidence	Disease	Inheritance	Phenotype	Evidence
High	Congenital myopathy	BIALLELIC, autosomal or pseudoautosomal	- Mitochondrial complex IV deficiency, nuclear type 18, OMIM:619062	- Expert Review Green - NHS GMS
High	Mitochondrial disorder with complex IV deficiency	BIALLELIC, autosomal or pseudoautosomal	- Mitochondrial complex IV deficiency, nuclear type 18, OMIM:619062	- Expert Review Green - NHS GMS
High	Possible mitochondrial disorder - nuclear genes	BIALLELIC, autosomal or pseudoautosomal	- Mitochondrial complex IV deficiency, nuclear type 18, OMIM:619062	- Expert Review Green - NHS GMS
High	Mitochondrial disorders	BIALLELIC, autosomal or pseudoautosomal	- Mitochondrial complex IV deficiency, nuclear type 18, OMIM:619062	- Expert Review Green - NHS GMS

ARMC5 PanelApp Whole gene - Size : 9,086 bases

Confidence	Disease	Inheritance	Phenotype	Evidence
High	Primary pigmented nodular adrenocortical disease	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	- ACTH-independent macronodular adrenal hyperplasia 2, OMIM:615954	- Expert Review Green - Expert list

SLC5A2 PanelApp Whole gene - Size : 7,858 bases

Confidence	Disease	Inheritance	Phenotype	Evidence
High	Renal tubulopathies	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	- Renal glucosuria, 233100	- Expert Review Green - NHS GMS
Low	Intellectual disability - microarray and sequencing			- Victorian Clinical Genetics Services

ClassifyCNV ACMG Score

Pathogenic

ClassifyCNV ACMG Criteria

2A
+ 1

Complete overlap of an established HI gene/genomic region.

2H
+ 0.15

Multiple HI predictors suggest that AT LEAST ONE gene in the interval is haploinsufficient (HI).

3C
+ 0.9

Number of protein-coding RefSeq genes wholly or partially included in the CNV region.

5B
-0.45

Patient with specific, well-defined phenotype and no family history. CNV is inherited from an apparently unaffected parent.

5D
+ 0.45

CNV segregates with a consistent phenotype observed in the patient’s family.

AnnotSV Score

Pathogenic

AnnotSV ACMG Criteria

2A
+ 1

Complete overlap of an established HI gene/genomic region.

3C
+ 0.9

Number of protein-coding RefSeq genes wholly or partially included in the CNV region.

5B
-0.45

Patient with specific, well-defined phenotype and no family history. CNV is inherited from an apparently unaffected parent.

5D
+ 0.45

CNV segregates with a consistent phenotype observed in the patient’s family.

Length (hg19) : 11,900,000 bases - Length (hg38) : 11,911,321 bases

CNV-Hub AChro-PuceLikely pathogenic

AChro-Puce Criteria taken into account 1

2 Major

4 Major

4 Major

4 Minor

4 Minor

ISV 2

XCNV 3

ClassifyCNV ACMG 4

AnnotSV ACMG 5

ACMG criteria

ClassifyCNV

2A + 1

2H + 0.15

3C + 0.9

5B -0.45

5D + 0.45

AnnotSV

2A + 1

3C + 0.9

5B -0.45

5D + 0.45

Diseases :

ClinGen

Decipher

DGV-Gold

0

0

DGV

0

0

Coe & Al study 6

0

0

Genes with pHaplo > 0.55 7

15

Genes with pTriplo > 0.68 7

36

Genes in SFARI

8

Genes in OMIM

107

Sources and references

0 Microdeletion and microduplication syndromes from litterature (>= 70% only)

107 OMIM Gene overlap(s)

Download genes as .csv

HS3ST4 NM_006040.3 Whole gene - Size : 445,726 bases

Database :

GSG1L NM_001109763.2 Whole gene - Size : 276,186 bases

Database :

KATNIP NM_015202.5 Whole gene - Size : 230,211 bases

Disease : Joubert syndrome

Source : Orphanet

Database :

Human Phenotype Ontology Show/Hide

TNRC6A NM_014494.4 Exons 1->25 / 25 - Size : 217,423 bases

Database :

Human Phenotype Ontology Show/Hide

XPO6 NM_015171.4 Whole gene - Size : 113,989 bases

Database :

ARHGAP17 NM_001006634.3 Whole gene - Size : 96,277 bases

Database :

GTF3C1 NM_001520.4 Whole gene - Size : 90,358 bases

Database :

ITGAM NM_000632.4 Whole gene - Size : 72,925 bases

Disease : Systemic lupus erythematosus

Source : Orphanet

Database :

Human Phenotype Ontology Show/Hide

LCMT1 NM_016309.3 Whole gene - Size : 66,500 bases

Database :

SLC5A11 NM_001352248.3 Whole gene - Size : 65,787 bases

Database :

SBK1 NM_001024401.3 Whole gene - Size : 64,603 bases

Database :

BCL7C NM_004765.4 Whole gene - Size : 60,676 bases

Database :

IL4R NM_000418.4 Whole gene - Size : 51,110 bases

CNV-Hub AChro-Puce
Likely pathogenic

AChro-Puce Criteria taken into account¹

ISV²

XCNV³

ClassifyCNV ACMG⁴

AnnotSV ACMG⁵

2A
+ 1

2H
+ 0.15

3C
+ 0.9

5B
-0.45

5D
+ 0.45

2A
+ 1

3C
+ 0.9

5B
-0.45

5D
+ 0.45

Coe & Al study⁶

Genes with pHaplo > 0.55⁷

Genes with pTriplo > 0.68⁷