Taille (hg19) : 274,394 bases - Taille (hg38) : 274,394 bases
CNV-Hub AChro-Puce
PIEV
PIEV (16p11.2 distale)
Criètres AChro-Puce pris en compte 1
4 Major
4 Major
4 Minor
4 Minor
4 Minor
ISV 2
XCNV 3
ClassifyCNV ACMG 4
AnnotSV ACMG 5
ACMG critères
ClassifyCNV
2A
+
1
AnnotSV
2A
+
1
Maladies :
| Gène | Maladie | Source | Transmission héréditaire |
|---|---|---|---|
| SH2B1 | Severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiency | Orphanet | Autosomal dominant |
| ATP2A1 | Brody myopathy | Orphanet | Autosomal dominant, Autosomal recessive |
| CD19 | Common variable immunodeficiency | Orphanet | Autosomal dominant, Autosomal recessive, Not applicable |
| TUFM | Combined oxidative phosphorylation defect type 4 | Orphanet | Autosomal recessive |
| LAT | Severe combined immunodeficiency due to LAT deficiency | Orphanet |
ClinGen
0 bénin CNV0 probablement bénin CNV
0 incertain CNV
2 probablement pathogénique CNV
31 pathogénique CNV
70% Chevauchement
Decipher
0 bénin CNV43 inconnu CNV
10 incertain CNV
33 pathogénique CNV
70% Chevauchement
DGV-Gold
0
80% Chevauchement
0
50% Chevauchement
DGV
0
80% Chevauchement
0
50% Chevauchement
Étude de Coe & Al 6
5
Cas Patient
70% Chevauchement
1
Cas Contrôle
70% Chevauchement
Gènes dans SFARI
0
Gènes dans OMIM
9
Sources et références
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
9 Gènes OMIM chevauchés
Télécharger les gèenes en .csv
Localisation : 28,915,742 - 28,947,847
Base de donnée :
DecipherGenomics OMIM:611869 GTEx Portal Human Protein Atlas Ensembl
Localisation : 28,857,921 - 28,885,533
Maladie : Severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiency
Source : Orphanet
Base de donnée :
DecipherGenomics PanelApp OMIM:608937 Orphanet:329249 HGNC:30417 PMID:23160192 GTEx Portal Human Protein Atlas Ensembl
Human Phenotype Ontology Montrer/Cacher
| 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. |
Localisation : 28,889,726 - 28,915,787
Maladie : Brody myopathy
Source : Orphanet
Base de donnée :
DecipherGenomics PanelApp OMIM:108730 Orphanet:53347 HGNC:811 PMID:10914677 GTEx Portal Human Protein Atlas Ensembl
Human Phenotype Ontology Montrer/Cacher
| 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. |
Localisation : 28,962,128 - 28,978,413
Base de donnée :
DecipherGenomics OMIM:614525 GTEx Portal Human Protein Atlas Ensembl
Localisation : 28,834,320 - 28,848,558
Base de donnée :
DecipherGenomics PanelApp OMIM:607931 GTEx Portal Human Protein Atlas Ensembl
Localisation : 28,985,542 - 28,995,869
Base de donnée :
DecipherGenomics OMIM:612583 GTEx Portal Human Protein Atlas Ensembl
Localisation : 28,943,286 - 28,950,663
Maladie : Common variable immunodeficiency
Source : Orphanet
Base de donnée :
DecipherGenomics PanelApp OMIM:107265 Orphanet:1572 HGNC:1633 GTEx Portal Human Protein Atlas Ensembl
Human Phenotype Ontology Montrer/Cacher
| 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. |
Localisation : 28,996,147 - 29,002,105
Maladie : Severe combined immunodeficiency due to LAT deficiency
Source : Orphanet
Base de donnée :
DecipherGenomics PanelApp OMIM:602354 Orphanet:504523 HGNC:18874 PMID:27522155 GTEx Portal Human Protein Atlas Ensembl
Human Phenotype Ontology Montrer/Cacher
| 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. |
Localisation : 28,853,732 - 28,857,669
Maladie : Combined oxidative phosphorylation defect type 4
Source : Orphanet
Base de donnée :
DecipherGenomics PanelApp OMIM:602389 Orphanet:254925 HGNC:12420 PMID:17160893 GTEx Portal Human Protein Atlas Ensembl
Human Phenotype Ontology Montrer/Cacher
| 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. |
17 Gène(s) Non-OMIM chevauché(s)
ENSG00000261067
Taille : 15,971 bases
Localisation : 28,986,125 - 29,002,096
ENSG00000251417
Taille : 15,085 bases
Localisation : 28,814,064 - 28,829,149
NFATC2IP-AS1
Taille : 14,067 bases
Localisation : 28,964,137 - 28,978,204
NPIPB10P
Taille : 14,071 bases
Localisation : 29,049,976 - 29,064,047
ENSG00000260570
Taille : 6,588 bases
Localisation : 28,841,933 - 28,848,521
ENSG00000260367
Taille : 4,862 bases
Localisation : 28,985,283 - 28,990,145
ENSG00000278528
Taille : 3,710 bases
Localisation : 28,785,145 - 28,788,855
ENSG00000240634
Taille : 693 bases
Localisation : 28,825,301 - 28,825,994
ENSG00000260796
Taille : 1,463 bases
Localisation : 28,831,891 - 28,833,354
ENSG00000275807
Taille : 1,538 bases
Localisation : 28,833,752 - 28,835,290
ENSG00000261766
Taille : 1,174 bases
Localisation : 28,873,487 - 28,874,661
ATP2A1-AS1
Taille : 2,000 bases
Localisation : 28,889,259 - 28,891,259
ENSG00000261552
Taille : 1,638 bases
Localisation : 29,000,461 - 29,002,099
NOVEL
Taille : 103 bases
Localisation : 28,797,731 - 28,797,834
KNOWN
Taille : 88 bases
Localisation : 28,855,240 - 28,855,328
NOVEL
Taille : 127 bases
Localisation : 28,892,801 - 28,892,928
KNOWN
Taille : 78 bases
Localisation : 28,969,904 - 28,969,982
34 ClinGen CNV chevauché(s) (>=70% seulement)
0 Bénin CNV 0 Probablement bénin CNV 0 Incertain CNV 2 Probablement pathogénique CNV 31 Pathogénique CNV
#1 Pathogenic (16p11.2)
Localisation : 28,802,396 - 29,051,191 |
Taille : 248,795 bases
Score : 1
#2 Pathogenic (16p11.2)
Localisation : 28,763,833 - 29,051,191 |
Taille : 287,358 bases
Score : 0
#3 Pathogenic (16p11.2)
Localisation : 28,763,834 - 29,051,191 |
Taille : 287,357 bases
Score : 1
#4 Pathogenic (nssv13644823)
Localisation : 28,763,833 - 29,043,863 |
Taille : 280,030 bases
Score : 0
#5 Pathogenic (16p11.2)
Localisation : 28,747,519 - 29,051,191 |
Taille : 303,672 bases
Score : 1
#6 Pathogenic (16p11.2)
Localisation : 28,819,027 - 29,051,191 |
Taille : 232,164 bases
Score : 0
#7 Pathogenic (nssv3397222)
Localisation : 28,819,027 - 29,051,191 |
Taille : 232,164 bases
Score : 0
#8 Pathogenic (nssv13652140)
Localisation : 28,819,027 - 29,043,972 |
Taille : 224,945 bases
Score : 0
#9 Pathogenic (nssv1609384)
Localisation : 28,820,742 - 29,044,776 |
Taille : 224,034 bases
Score : 0
#10 Pathogenic (nssv1610312)
Localisation : 28,824,793 - 29,044,776 |
Taille : 219,983 bases
Score : 0
#11 Pathogenic (nssv1604382)
Localisation : 28,824,793 - 29,043,960 |
Taille : 219,167 bases
Score : 0
#12 Pathogenic (16p11.2)
Localisation : 28,825,604 - 29,043,450 |
Taille : 217,846 bases
Score : 1
#13 Pathogenic (16p11.2)
Localisation : 28,826,161 - 29,043,960 |
Taille : 217,799 bases
Score : 1
#14 Pathogenic (nssv1609601)
Localisation : 28,733,738 - 29,044,776 |
Taille : 311,038 bases
Score : 0
#15 Pathogenic (16p11.2)
Localisation : 28,734,570 - 29,043,450 |
Taille : 308,880 bases
Score : 1
Phénotype :
Distal 16p11.2 microdeletion syndrome
#16 Pathogenic/Likely pathogenic (nssv13642995)
Localisation : 28,826,161 - 29,043,901 |
Taille : 217,740 bases
Score : 0
#17 Pathogenic (nssv3396771)
Localisation : 28,708,172 - 29,051,191 |
Taille : 343,019 bases
Score : 0
#18 Pathogenic (nssv577891)
Localisation : 28,721,798 - 29,037,107 |
Taille : 315,309 bases
Score : 1
#19 Pathogenic (Single allele)
Localisation : 28,837,449 - 29,042,118 |
Taille : 204,669 bases
Score : 1
Phénotype :
Proximal 16p11.2 microdeletion syndrome
#20 Pathogenic (nssv578114)
Localisation : 28,837,449 - 29,042,118 |
Taille : 204,669 bases
Score : 1
#21 Pathogenic (16p11.2)
Localisation : 28,837,904 - 29,088,624 |
Taille : 250,720 bases
Score : 0
#22 Pathogenic (16p11.2)
Localisation : 28,689,084 - 29,051,191 |
Taille : 362,107 bases
Score : 0
Phénotype :
Distal 16p11.2 microdeletion syndrome
#23 Pathogenic (16p11.2)
Localisation : 28,689,084 - 29,051,191 |
Taille : 362,107 bases
Score : 0
#24 Pathogenic (nssv1610483)
Localisation : 28,689,084 - 29,051,191 |
Taille : 362,107 bases
Score : 0
#25 Likely pathogenic (nssv1415448)
Localisation : 28,824,793 - 29,133,735 |
Taille : 308,942 bases
Score : 0
#26 Pathogenic (nssv1603731)
Localisation : 28,843,753 - 29,031,071 |
Taille : 187,318 bases
Score : 0
#27 Pathogenic (nssv578225)
Localisation : 28,854,628 - 29,037,107 |
Taille : 182,479 bases
Score : 1
#28 Pathogenic (nssv1415380)
Localisation : 28,861,530 - 29,043,960 |
Taille : 182,430 bases
Score : 0
#29 Pathogenic (16p11.2)
Localisation : 28,784,626 - 29,230,353 |
Taille : 445,727 bases
Score : 1
Phénotype :
Distal 16p11.2 microdeletion syndrome
#30 Pathogenic (16p11.2)
Localisation : 28,819,027 - 28,988,225 |
Taille : 169,198 bases
Score : 0
#31 Pathogenic (16p11.2)
Localisation : 28,861,530 - 29,031,059 |
Taille : 169,529 bases
Score : 1
Phénotype :
Macular dystrophy,Intellectual disability,moderate
#32 Pathogenic (nssv707120)
Localisation : 28,861,530 - 29,031,059 |
Taille : 169,529 bases
Score : 0
#33 Likely pathogenic (Single allele)
Localisation : 28,668,058 - 29,001,338 |
Taille : 333,280 bases
Score : 1
Phénotype :
Proximal 16p11.2 microdeletion syndrome
#34 Pathogenic (g.)
Localisation : 28,854,295 - 29,001,333 |
Taille : 147,038 bases
Score : 1
Phénotype :
Brody myopathy
86 Decipher CNV chevauché(s) (>=70% seulement)
0 Bénin CNV 43 Inconnu CNV 10 Incertain CNV 33 Pathogénique CNV
#1 : pathogenic
Localisation : 28,796,367 - 29,076,269
| Taille : 279,902 bases
Identifiant patient : 331026
Genre : Inconnu
Phénotype :
Global developmental delay
#2 : pathogenic
Localisation : 28,796,367 - 29,076,269
| Taille : 279,902 bases
Identifiant patient : 331703
Genre : Inconnu
Phénotype :
Autism, Obesity, Hypercholesterolemia, Autism, Obesity, Hypercholesterolemia
#3 : pathogenic
Localisation : 28,748,615 - 29,051,191
| Taille : 302,576 bases
Identifiant patient : 376144
Genre : Inconnu
Phénotype :
Intellectual disability, mild, Laryngomalacia, Intellectual disability, mild, Laryngomalacia
#4 : unknown
Localisation : 28,819,027 - 29,051,191
| Taille : 232,164 bases
Identifiant patient : 268970
Genre : Inconnu
#5 : pathogenic
Localisation : 28,824,856 - 29,051,191
| Taille : 226,335 bases
Identifiant patient : 353972
Genre : Inconnu
Phénotype :
Global developmental delay
#6 : unknown
Localisation : 28,823,914 - 29,043,863
| Taille : 219,949 bases
Identifiant patient : 256834
Genre : Inconnu
Phénotype :
Acanthosis nigricans, Obesity
#7 : unknown
Localisation : 28,824,793 - 29,044,776
| Taille : 219,983 bases
Identifiant patient : 265791
Genre : Inconnu
#8 : unknown
Localisation : 28,824,793 - 29,044,776
| Taille : 219,983 bases
Identifiant patient : 266893
Genre : Inconnu
#9 : unknown
Localisation : 28,824,793 - 29,044,776
| Taille : 219,983 bases
Identifiant patient : 267633
Genre : Inconnu
#10 : unknown
Localisation : 28,824,793 - 29,044,716
| Taille : 219,923 bases
Identifiant patient : 249980
Genre : Inconnu
Phénotype :
Narrow palate, Epicanthus, Long philtrum, Abnormality of the outer ear, Strabismus, Periorbital fullness, Hyperactivity, Intellectual disability, Seizure, Macrodontia, Preauricular pit
#11 : uncertain
Localisation : 28,824,777 - 29,039,612
| Taille : 214,835 bases
Identifiant patient : 288223
Genre : Inconnu
Phénotype :
Autism, Obesity
#12 : uncertain
Localisation : 28,824,777 - 29,039,612
| Taille : 214,835 bases
Identifiant patient : 289170
Genre : Inconnu
Phénotype :
Intrauterine growth retardation, Anal atresia
#13 : uncertain
Localisation : 28,824,777 - 29,039,612
| Taille : 214,835 bases
Identifiant patient : 289489
Genre : Inconnu
Phénotype :
Behavioral abnormality, Intellectual disability
#14 : uncertain
Localisation : 28,824,777 - 29,039,612
| Taille : 214,835 bases
Identifiant patient : 290435
Genre : Inconnu
Phénotype :
Seizure, Schizophrenia
#15 : pathogenic
Localisation : 28,824,777 - 29,039,612
| Taille : 214,835 bases
Identifiant patient : 331214
Genre : Inconnu
Phénotype :
Global developmental delay
#16 : pathogenic
Localisation : 28,824,777 - 29,039,612
| Taille : 214,835 bases
Identifiant patient : 331402
Genre : Inconnu
Phénotype :
Autism, Intellectual disability
#17 : pathogenic
Localisation : 28,824,777 - 29,039,612
| Taille : 214,835 bases
Identifiant patient : 331410
Genre : Inconnu
Phénotype :
Global developmental delay
#18 : unknown
Localisation : 28,824,777 - 29,084,776
| Taille : 259,999 bases
Identifiant patient : 251690
Genre : Inconnu
Phénotype :
Intellectual disability, Intellectual disability, Intellectual disability
#19 : pathogenic
Localisation : 28,824,793 - 29,042,059
| Taille : 217,266 bases
Identifiant patient : 318160
Genre : Inconnu
#20 : pathogenic
Localisation : 28,824,793 - 29,042,059
| Taille : 217,266 bases
Identifiant patient : 358409
Genre : Inconnu
#21 : unknown
Localisation : 28,824,793 - 29,042,118
| Taille : 217,325 bases
Identifiant patient : 267549
Genre : Inconnu
Phénotype :
Abnormality of the face, Strabismus, Intellectual disability
#22 : unknown
Localisation : 28,824,793 - 29,042,118
| Taille : 217,325 bases
Identifiant patient : 277574
Genre : Inconnu
Phénotype :
Autistic behavior, Increased body weight, Moderate global developmental delay, Proportionate tall stature, Autistic behavior, Increased body weight, Moderate global developmental delay, Proportionate tall stature, Autistic behavior, Increased body weight, Moderate global developmental delay, Proportionate tall stature
#23 : pathogenic
Localisation : 28,824,793 - 29,042,118
| Taille : 217,325 bases
Identifiant patient : 339899
Genre : Inconnu
Phénotype :
Intellectual disability, mild, Obesity
#24 : uncertain
Localisation : 28,824,793 - 29,042,118
| Taille : 217,325 bases
Identifiant patient : 368772
Genre : Inconnu
Phénotype :
Intellectual disability
#25 : pathogenic
Localisation : 28,824,801 - 29,040,571
| Taille : 215,770 bases
Identifiant patient : 411578
Genre : Inconnu
Phénotype :
Strabismus, Global developmental delay, Generalized hypotonia, Obesity, Short foot, Polyphagia, Genu varum, Small hand, Strabismus, Global developmental delay, Generalized hypotonia, Obesity, Short foot, Polyphagia, Genu varum, Small hand
#26 : pathogenic
Localisation : 28,825,604 - 29,042,014
| Taille : 216,410 bases
Identifiant patient : 394779
Genre : Inconnu
Phénotype :
Intellectual disability, Hypotonia
#27 : pathogenic
Localisation : 28,833,435 - 29,046,284
| Taille : 212,849 bases
Identifiant patient : 282629
Genre : Inconnu
Phénotype :
Short philtrum, Posteriorly rotated ears, Anteverted nares, Strabismus, Hypotelorism, Aggressive behavior, Anxiety, Delayed speech and language development, Obesity, Frontal bossing, Gastroesophageal reflux, Secondary microcephaly, Attention deficit hyperactivity disorder
#28 : pathogenic
Localisation : 28,833,435 - 29,046,284
| Taille : 212,849 bases
Identifiant patient : 285165
Genre : Inconnu
Phénotype :
Depression, Obesity
#29 : unknown
Localisation : 28,823,913 - 29,103,019
| Taille : 279,106 bases
Identifiant patient : 277713
Genre : Inconnu
Phénotype :
Abnormality of the nervous system, Seizure, Overgrowth, Intellectual disability, borderline, Abnormal CNS myelination
#30 : unknown
Localisation : 28,824,793 - 29,031,059
| Taille : 206,266 bases
Identifiant patient : 270628
Genre : Inconnu
Phénotype :
Tall stature, Intellectual disability, Obesity
#31 : uncertain
Localisation : 28,824,793 - 29,031,059
| Taille : 206,266 bases
Identifiant patient : 377611
Genre : Inconnu
Phénotype :
Intellectual disability, Global developmental delay, Intellectual disability, Global developmental delay
#32 : pathogenic
Localisation : 28,824,793 - 29,031,059
| Taille : 206,266 bases
Identifiant patient : 383006
Genre : Inconnu
#33 : unknown
Localisation : 28,837,249 - 29,042,259
| Taille : 205,010 bases
Identifiant patient : 249363
Genre : Inconnu
Phénotype :
Preauricular skin tag, Ptosis, Delayed speech and language development, Intellectual disability, Hypotonia, Feeding difficulties in infancy
#34 : unknown
Localisation : 28,837,389 - 29,042,178
| Taille : 204,789 bases
Identifiant patient : 277182
Genre : Inconnu
Phénotype :
Ptosis, Epicanthus inversus, Blepharophimosis, Global developmental delay
#35 : pathogenic
Localisation : 28,837,389 - 29,042,178
| Taille : 204,789 bases
Identifiant patient : 300646
Genre : Inconnu
Phénotype :
Stereotypy, Global developmental delay, Absent speech
#36 : unknown
Localisation : 28,837,449 - 29,042,118
| Taille : 204,669 bases
Identifiant patient : 250064
Genre : Inconnu
Phénotype :
Abnormality of the face, Intellectual disability
#37 : unknown
Localisation : 28,837,449 - 29,042,118
| Taille : 204,669 bases
Identifiant patient : 251199
Genre : Inconnu
Phénotype :
Intellectual disability, Obesity
#38 : unknown
Localisation : 28,837,449 - 29,042,118
| Taille : 204,669 bases
Identifiant patient : 253267
Genre : Inconnu
Phénotype :
Microcephaly, Intellectual disability, Nasal speech, Microcephaly, Intellectual disability, Nasal speech, Microcephaly, Intellectual disability, Nasal speech
#39 : pathogenic
Localisation : 28,837,449 - 29,042,118
| Taille : 204,669 bases
Identifiant patient : 293080
Genre : Inconnu
Phénotype :
Obesity, Cognitive impairment, Obesity, Cognitive impairment, Obesity, Cognitive impairment
#40 : pathogenic
Localisation : 28,837,449 - 29,042,118
| Taille : 204,669 bases
Identifiant patient : 301697
Genre : Inconnu
Phénotype :
Autism, Cognitive impairment, Autism, Cognitive impairment
#41 : pathogenic
Localisation : 28,837,449 - 29,042,118
| Taille : 204,669 bases
Identifiant patient : 303558
Genre : Inconnu
#42 : unknown
Localisation : 28,837,449 - 29,042,118
| Taille : 204,669 bases
Identifiant patient : 276681
Genre : Inconnu
Phénotype :
Global developmental delay
#43 : unknown
Localisation : 28,837,449 - 29,042,118
| Taille : 204,669 bases
Identifiant patient : 278593
Genre : Inconnu
Phénotype :
Intellectual disability, moderate
#44 : pathogenic
Localisation : 28,837,449 - 29,042,118
| Taille : 204,669 bases
Identifiant patient : 284131
Genre : Inconnu
Phénotype :
Autistic behavior
#45 : pathogenic
Localisation : 28,837,449 - 29,042,118
| Taille : 204,669 bases
Identifiant patient : 287726
Genre : Inconnu
Phénotype :
Global developmental delay, Global developmental delay
#46 : pathogenic
Localisation : 28,837,449 - 29,042,118
| Taille : 204,669 bases
Identifiant patient : 292839
Genre : Inconnu
Phénotype :
Cognitive impairment, Cognitive impairment, Cognitive impairment
#47 : unknown
Localisation : 28,837,449 - 29,042,118
| Taille : 204,669 bases
Identifiant patient : 254152
Genre : Inconnu
#48 : unknown
Localisation : 28,837,449 - 29,042,118
| Taille : 204,669 bases
Identifiant patient : 255967
Genre : Inconnu
#49 : unknown
Localisation : 28,837,449 - 29,042,118
| Taille : 204,669 bases
Identifiant patient : 257153
Genre : Inconnu
#50 : unknown
Localisation : 28,837,449 - 29,042,118
| Taille : 204,669 bases
Identifiant patient : 257155
Genre : Inconnu
#51 : unknown
Localisation : 28,837,449 - 29,042,118
| Taille : 204,669 bases
Identifiant patient : 258408
Genre : Inconnu
#52 : unknown
Localisation : 28,837,449 - 29,042,118
| Taille : 204,669 bases
Identifiant patient : 263127
Genre : Inconnu
#53 : unknown
Localisation : 28,837,449 - 29,042,118
| Taille : 204,669 bases
Identifiant patient : 267900
Genre : Inconnu
#54 : unknown
Localisation : 28,837,449 - 29,042,118
| Taille : 204,669 bases
Identifiant patient : 269994
Genre : Inconnu
#55 : unknown
Localisation : 28,837,449 - 29,042,118
| Taille : 204,669 bases
Identifiant patient : 272661
Genre : Inconnu
Phénotype :
Intellectual disability
#56 : unknown
Localisation : 28,837,449 - 29,042,118
| Taille : 204,669 bases
Identifiant patient : 253296
Genre : Inconnu
#57 : unknown
Localisation : 28,837,449 - 29,042,118
| Taille : 204,669 bases
Identifiant patient : 253362
Genre : Inconnu
#58 : unknown
Localisation : 28,837,449 - 29,042,118
| Taille : 204,669 bases
Identifiant patient : 253363
Genre : Inconnu
#59 : unknown
Localisation : 28,837,449 - 29,042,118
| Taille : 204,669 bases
Identifiant patient : 253364
Genre : Inconnu
#60 : unknown
Localisation : 28,837,449 - 29,042,118
| Taille : 204,669 bases
Identifiant patient : 253365
Genre : Inconnu
#61 : pathogenic
Localisation : 28,837,449 - 29,042,118
| Taille : 204,669 bases
Identifiant patient : 325628
Genre : Inconnu
Phénotype :
Intellectual disability, Obesity
#62 : pathogenic
Localisation : 28,837,449 - 29,042,118
| Taille : 204,669 bases
Identifiant patient : 326517
Genre : Inconnu
Phénotype :
Specific learning disability, HP:0011398
#63 : pathogenic
Localisation : 28,837,449 - 29,042,118
| Taille : 204,669 bases
Identifiant patient : 331840
Genre : Inconnu
Phénotype :
Intrauterine growth retardation, Intrauterine growth retardation
#64 : pathogenic
Localisation : 28,837,449 - 29,042,118
| Taille : 204,669 bases
Identifiant patient : 339285
Genre : Inconnu
Phénotype :
Growth delay, Type I diabetes mellitus
#65 : pathogenic
Localisation : 28,837,449 - 29,042,118
| Taille : 204,669 bases
Identifiant patient : 339819
Genre : Inconnu
Phénotype :
Global developmental delay, Obesity
#66 : pathogenic
Localisation : 28,837,449 - 29,042,118
| Taille : 204,669 bases
Identifiant patient : 340588
Genre : Inconnu
Phénotype :
Overgrowth, Intellectual disability, severe
#67 : unknown
Localisation : 28,837,449 - 29,042,118
| Taille : 204,669 bases
Identifiant patient : 341016
Genre : Inconnu
#68 : pathogenic
Localisation : 28,708,185 - 29,088,624
| Taille : 380,439 bases
Identifiant patient : 381680
Genre : Inconnu
Phénotype :
Intrauterine growth retardation
#69 : unknown
Localisation : 28,689,084 - 29,051,191
| Taille : 362,107 bases
Identifiant patient : 283459
Genre : Inconnu
Phénotype :
Autistic behavior, Autistic behavior, Autistic behavior
#70 : pathogenic
Localisation : 28,689,084 - 29,051,191
| Taille : 362,107 bases
Identifiant patient : 314116
Genre : Inconnu
Phénotype :
Autism, Aggressive behavior, Generalized hypotonia, Severe global developmental delay
#71 : unknown
Localisation : 28,689,084 - 29,043,863
| Taille : 354,779 bases
Identifiant patient : 283458
Genre : Inconnu
Phénotype :
Autistic behavior, Autistic behavior, Autistic behavior
#72 : unknown
Localisation : 28,843,572 - 29,031,200
| Taille : 187,628 bases
Identifiant patient : 278240
Genre : Inconnu
Phénotype :
Intellectual disability, Intellectual disability
#73 : pathogenic
Localisation : 28,843,753 - 29,031,071
| Taille : 187,318 bases
Identifiant patient : 356980
Genre : Inconnu
Phénotype :
Delayed speech and language development, Global developmental delay, Motor delay, Ischemic stroke, Left hemiplegia
#74 : unknown
Localisation : 28,843,801 - 29,031,029
| Taille : 187,228 bases
Identifiant patient : 255706
Genre : Inconnu
#75 : unknown
Localisation : 28,843,801 - 29,031,029
| Taille : 187,228 bases
Identifiant patient : 277613
Genre : Inconnu
#76 : unknown
Localisation : 28,843,801 - 29,031,029
| Taille : 187,228 bases
Identifiant patient : 280343
Genre : Inconnu
#77 : unknown
Localisation : 28,843,801 - 29,031,029
| Taille : 187,228 bases
Identifiant patient : 285452
Genre : Inconnu
#78 : uncertain
Localisation : 28,843,801 - 29,031,029
| Taille : 187,228 bases
Identifiant patient : 286534
Genre : Inconnu
#79 : uncertain
Localisation : 28,843,801 - 29,031,029
| Taille : 187,228 bases
Identifiant patient : 287625
Genre : Inconnu
#80 : uncertain
Localisation : 28,843,801 - 29,031,029
| Taille : 187,228 bases
Identifiant patient : 304096
Genre : Inconnu
Phénotype :
Autism
#81 : unknown
Localisation : 28,843,801 - 29,031,029
| Taille : 187,228 bases
Identifiant patient : 314961
Genre : Inconnu
#82 : unknown
Localisation : 28,843,802 - 29,031,030
| Taille : 187,228 bases
Identifiant patient : 260398
Genre : Inconnu
#83 : uncertain
Localisation : 28,843,802 - 29,031,030
| Taille : 187,228 bases
Identifiant patient : 301347
Genre : Inconnu
Phénotype :
Autistic behavior, Seizure, Abnormal fear\/anxiety\-related behavior, Autistic behavior, Seizure, Abnormal fear\/anxiety\-related behavior
#84 : pathogenic
Localisation : 28,796,367 - 29,182,200
| Taille : 385,833 bases
Identifiant patient : 305256
Genre : Inconnu
#85 : unknown
Localisation : 28,861,559 - 29,031,029
| Taille : 169,470 bases
Identifiant patient : 268487
Genre : Inconnu
Phénotype :
Strabismus, Aggressive behavior, Intellectual disability, Truncal obesity, Strabismus, Aggressive behavior, Intellectual disability, Truncal obesity
#86 : pathogenic
Localisation : 28,617,569 - 29,097,626
| Taille : 480,057 bases
Identifiant patient : 270510
Genre : Inconnu
Phénotype :
Shawl scrotum, Long face, Myoclonus, Plagiocephaly, Polyhydramnios, Ventriculomegaly, Generalized\-onset seizure, EEG abnormality, EEG with polyspike wave complexes, Focal myoclonic seizure, Severe global developmental delay, Shawl scrotum, Long face, Myoclonus, Plagiocephaly, Polyhydramnios, Ventriculomegaly, Generalized\-onset seizure, EEG abnormality, EEG with polyspike wave complexes, Focal myoclonic seizure, Severe global developmental delay
0 Gène(s) dans la base SFARI
0 DGV-Gold chévauché(s) (>=50% seulement)
0 DGV chevauché(s) (>=50% seulement)
5 Cas Patient (>=70% seulement)
28,833,294 - 29,037,247
Taille : 203,953 bases
3 Rapports
28,833,435 - 29,008,513
Taille : 175,078 bases
1 Rapports
28,833,435 - 29,046,284
Taille : 212,849 bases
15 Rapports
28,833,494 - 29,037,108
Taille : 203,614 bases
6 Rapports
28,833,494 - 29,037,107
Taille : 203,613 bases
1 Rapports
1 Cas Contrôle (>=70% seulement)
nssv855478
Localisation : 28835494 - 29043450 | Taille : 207956 bases
6 Gène(s) dans la base PanelApp
| Confiance | Maladie | Transmission héréditaire | Phénotype | Preuve |
|---|---|---|---|---|
| Moyenne | 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 |
| Confiance | Maladie | Transmission héréditaire | Phénotype | Preuve |
|---|---|---|---|---|
| Haute | Skeletal Muscle Channelopathies | BIALLELIC, autosomal or pseudoautosomal |
- Brody myopathy 601003 |
- Expert Review Green - Expert list |
| Basse | Other rare neuromuscular disorders | BIALLELIC, autosomal or pseudoautosomal |
- Brody myopathy, 601003 - Brody Myopathy |
- Expert Review Red |
| Basse | 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 |
| Basse | 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 |
| Basse | 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 |
| Haute | Skeletal muscle channelopathy | BIALLELIC, autosomal or pseudoautosomal |
- Brody myopathy OMIM:601003 |
- NHS GMS - Expert Review Green - London North GLH |
| Basse | 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 |
| Haute | Severe Paediatric Disorders | BIALLELIC, autosomal or pseudoautosomal |
- Brody myopathy, 601003 |
- Next Generation Children Project - Expert Review Green - Expert list |
| Haute | Severe Paediatric Disorders | BIALLELIC, autosomal or pseudoautosomal |
- Brody myopathy, 601003 |
- Next Generation Children Project - Expert Review Green - Expert list |
| Confiance | Maladie | Transmission héréditaire | Phénotype | Preuve |
|---|---|---|---|---|
| Moyenne | Intellectual disability - microarray and sequencing | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted |
- Intellectual disability - Macrocephaly |
- Expert Review Amber - Literature |
| Confiance | Maladie | Transmission héréditaire | Phénotype | Preuve |
|---|---|---|---|---|
| Haute | 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 |
| Haute | 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 |
| Haute | Severe Paediatric Disorders | BIALLELIC, autosomal or pseudoautosomal |
- Immunodeficiency, common variable, 3, 613493 |
- Next Generation Children Project - Expert Review Green - Expert list |
| Haute | Severe Paediatric Disorders | BIALLELIC, autosomal or pseudoautosomal |
- Immunodeficiency, common variable, 3, 613493 |
- Next Generation Children Project - Expert Review Green - Expert list |
| Haute | Severe Paediatric Disorders | BIALLELIC, autosomal or pseudoautosomal |
- Immunodeficiency, common variable, 3, 613493 |
- Next Generation Children Project - Expert Review Green - Expert list |
| Confiance | Maladie | Transmission héréditaire | Phénotype | Preuve |
|---|---|---|---|---|
| Haute | 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 |
| Moyenne | Inherited bleeding disorders | BIALLELIC, autosomal or pseudoautosomal |
- Immunodeficiency 52, 617514 |
- Expert Review Amber - Other |
| Haute | 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 |
| Moyenne | Cytopenias and congenital anaemias | BIALLELIC, autosomal or pseudoautosomal |
- Immunodeficiency 52, 617514 |
- Expert Review Amber - Other |
| Moyenne | Cytopenia - NOT Fanconi anaemia | BIALLELIC, autosomal or pseudoautosomal |
- Immunodeficiency 52, 617514 |
- North West GLH - NHS GMS - Expert Review Amber - Wessex and West Midlands GLH |
| Haute | Severe Paediatric Disorders | BIALLELIC, autosomal or pseudoautosomal |
- Immunodeficiency 52, 617514 |
- Next Generation Children Project - Expert Review Green - Expert list |
| Confiance | Maladie | Transmission héréditaire | Phénotype | Preuve |
|---|---|---|---|---|
| Haute | 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 |
| Moyenne | Inherited white matter disorders | BIALLELIC, autosomal or pseudoautosomal |
- Mitochondrial Leukoencephalopathy |
- Expert Review Amber - Expert list |
| Haute | 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 |
| Haute | 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 |
| Haute | Possible mitochondrial disorder - nuclear genes | BIALLELIC, autosomal or pseudoautosomal |
- Combined oxidative phosphorylation deficiency 4, 610678 |
- Expert Review Green - NHS GMS |
| Moyenne | Fetal anomalies | BIALLELIC, autosomal or pseudoautosomal |
- COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 4 |
- Expert Review Amber - PAGE DD-Gene2Phenotype |
| Haute | DDG2P | BIALLELIC, autosomal or pseudoautosomal |
- COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 4 610678 |
- Expert Review Green - DD-Gene2Phenotype |
| Basse | Intellectual disability - microarray and sequencing | BIALLELIC, autosomal or pseudoautosomal |
- Combined oxidative phosphorylation deficiency 4, 610678 |
- Expert Review Red |
| Haute | 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 |
| Basse | Childhood onset dystonia, chorea or related movement disorder |
- Expert Review Red - London North GLH |
||
| Haute | Severe Paediatric Disorders | BIALLELIC, autosomal or pseudoautosomal |
- Combined oxidative phosphorylation deficiency 4, 610678 |
- Next Generation Children Project - Expert Review Green - Expert list |