UCSC
UCSC

Taille (hg19) : 3,800,000 bases - Taille (hg38) : 3,087,403 bases


skin skin skin skin skin skin skin skin skin skin skin skin skin skin skin

CNV-Hub AChro-Puce
Incertain



Criètres AChro-Puce pris en compte 1

Class

2 Major

CNV hérité par des parents Asymptomatiques.

Class

2 Major

Au moins une occurrence dans DGV / DGV-Gold > 80 % de chevauchement

Class

2 Minor

Au moins une occurrence dans DGV / DGV-Gold > 50 % de chevauchement

Class

4 Major

CNV De novo ou hérité par des parents Symptomatiques.

Class

4 Major

Au moins une occurrence pathogénique ou probablement pathogénique dans les bases de données patientes > 80 % de chevauchement

Class

4 Minor

Au moins une occurrence pathogénique ou probablement pathogénique dans les bases de données patientes > 50 % de chevauchement

Class

4 Minor

CNV de plus ou au moins 1 Mb.


ISV 2

XCNV 3

ClassifyCNV ACMG 4

AnnotSV ACMG 5

ACMG critères

ClassifyCNV

2H
+ 0.15

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

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.


ClinGen

0 bénin CNV
0 probablement bénin CNV
1 incertain CNV
3 probablement pathogénique CNV
12 pathogénique CNV

70% Chevauchement


Decipher

0 bénin CNV
5 inconnu CNV
4 incertain CNV
4 pathogénique CNV

70% Chevauchement

DGV-Gold

0

80% Chevauchement

0

50% Chevauchement


DGV

1

80% Chevauchement

1

50% Chevauchement


Étude de Coe & Al 6

1

Cas Patient
70% Chevauchement

1

Cas Contrôle
70% Chevauchement


Gènes avec pHaplo > 0.55 7

2

MAPK8 WDFY4

Gènes avec pTriplo > 0.68 7

1

MAPK8

Gènes dans SFARI

1

WDFY4

Gènes dans OMIM

12

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

Delete and Recompute CNV

12 Gènes OMIM chevauchés

Télécharger les gèenes en .csv

HPO Id HPO Term OMIM Disease

WDFY4 NM_001394531.1   Exons 1->1 / 62 - Taille : 298,083 bases


pLI : 0.34 LOEUF : 0.3 pHaplo : 0.79 pTriplo : 0.26
Localisation : 49,892,918 - 50,191,001

Base de donnée :

DecipherGenomics OMIM:613316 GTEx Portal Human Protein Atlas Ensembl


SFARI (Base de donnée sur l'autisme) :

Score du gène : 2
N'est pas syndromique
Pas de score EAGLE
Rapports : 8

ARHGAP22 NM_021226.4   Exons 1->10 / 10 - Taille : 210,231 bases


pLI : 0 LOEUF : 0.93 sHet : 0.026 pHaplo : 0.18 pTriplo : 0.59
Localisation : 49,654,079 - 49,864,310

Base de donnée :

DecipherGenomics OMIM:610585 GTEx Portal Human Protein Atlas Ensembl

MAPK8 NM_001323329.2   Exons 1->12 / 12 - Taille : 132,721 bases


pLI : 1 LOEUF : 0.21 sHet : 0.081 pHaplo : 0.61 pTriplo : 0.97
Localisation : 49,514,682 - 49,647,403

Base de donnée :

DecipherGenomics PanelApp OMIM:601158 GTEx Portal Human Protein Atlas Ensembl

Human Phenotype Ontology   Montrer/Cacher

HP:0031819 Increased waist to hip ratio Increased waist-to-hip ratio (WHR) is a measurement above the average for the dimensionless ratio of the circumference of the waist to that of the hips. WHR is calculated as waist measurement divided by hip measurement.
HP:0005978 Type II diabetes mellitus A type of diabetes mellitus initially characterized by insulin resistance and hyperinsulinemia and subsequently by glucose interolerance and hyperglycemia.
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:0003584 Late onset A type of adult onset with onset of symptoms after the age of 60 years.
HP:0000855 Insulin resistance Increased resistance towards insulin, that is, diminished effectiveness of insulin in reducing blood glucose levels.

FRMPD2 NM_001018071.4   Exons 1->29 / 29 - Taille : 121,608 bases


pLI : 0 LOEUF : 1.18 sHet : 0.004 pHaplo : 0.08 pTriplo : 0.27
Localisation : 49,361,131 - 49,482,739

Base de donnée :

DecipherGenomics OMIM:613323 GTEx Portal Human Protein Atlas Ensembl

WASHC2C NM_001330074.2   Gène complet - Taille : 65,764 bases


pLI : 0 LOEUF : 0.86
Localisation : 46,222,648 - 46,288,412

Base de donnée :

DecipherGenomics OMIM:613631 GTEx Portal Human Protein Atlas Ensembl

ANXA8 NM_001040084.3   Gène complet - Taille : 23,996 bases


pHaplo : 0.18 pTriplo : 0.58
Localisation : 48,255,204 - 48,279,200

Base de donnée :

DecipherGenomics OMIM:602396 GTEx Portal Human Protein Atlas Ensembl

SYT15 NM_031912.5   Gène complet - Taille : 15,956 bases


pLI : 0 LOEUF : 1.78 pHaplo : 0.11 pTriplo : 0.3
Localisation : 46,955,444 - 46,971,400

Base de donnée :

DecipherGenomics PanelApp OMIM:608081 GTEx Portal Human Protein Atlas Ensembl

GPRIN2 NM_001385282.1   Gène complet - Taille : 14,922 bases


pLI : 0 LOEUF : 1.49 sHet : 0.004 pHaplo : 0.12 pTriplo : 0.29
Localisation : 46,992,959 - 47,007,881

Base de donnée :

DecipherGenomics OMIM:611240 GTEx Portal Human Protein Atlas Ensembl

GDF10 NM_004962.5   Gène complet - Taille : 13,380 bases


sHet : 0.043 pHaplo : 0.52 pTriplo : 0.57
Localisation : 48,425,785 - 48,439,165

Base de donnée :

DecipherGenomics OMIM:601361 GTEx Portal Human Protein Atlas Ensembl

RBP3 NM_002900.3   Gène complet - Taille : 9,518 bases


sHet : 0.027 pHaplo : 0.18 pTriplo : 0.22
Localisation : 48,381,481 - 48,390,999

Base de donnée :

DecipherGenomics PanelApp OMIM:180290 GTEx Portal Human Protein Atlas Ensembl

Human Phenotype Ontology   Montrer/Cacher

HP:0000501 Glaucoma Glaucoma refers loss of retinal ganglion cells in a characteristic pattern of optic neuropathy usually associated with increased intraocular pressure.
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:0001419 X-linked recessive inheritance A mode of inheritance that is observed for recessive traits related to a gene encoded on the X chromosome. In the context of medical genetics, X-linked recessive disorders manifest in males (who have one copy of the X chromosome and are thus hemizygotes), but generally not in female heterozygotes who have one mutant and one normal allele.
HP:0007663 Reduced visual acuity
HP:0005978 Type II diabetes mellitus A type of diabetes mellitus initially characterized by insulin resistance and hyperinsulinemia and subsequently by glucose interolerance and hyperglycemia.
HP:0000842 Hyperinsulinemia An increased concentration of insulin in the blood.
HP:0008046 Abnormal retinal vascular morphology A structural abnormality of retinal vasculature.
HP:0003581 Adult onset Onset of disease manifestations in adulthood, defined here as at the age of 16 years or later.
HP:0000543 Optic disc pallor A pale yellow discoloration of the optic disk (the area of the optic nerve head in the retina). The optic disc normally has a pinkish hue with a central yellowish depression.
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:0007675 Progressive night blindness
HP:0001133 Constriction of peripheral visual field An absolute or relative decrease in retinal sensitivity extending from edge (periphery) of the visual field in a concentric pattern. The visual field is the area that is perceived simultaneously by a fixating eye.
HP:0031605 Abnormality of fundus pigmentation Any anomaly of the pigmentation of the fundus, the posterior part of the eye including the retina and optic nerve.
HP:0000987 Atypical scarring of skin Atypically scarred skin .
HP:0000613 Photophobia Excessive sensitivity to light with the sensation of discomfort or pain in the eyes due to exposure to bright light.
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:0007703 Abnormality of retinal pigmentation
HP:0000563 Keratoconus A cone-shaped deformity of the cornea characterized by the presence of corneal distortion secondary to thinning of the apex.
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: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:0000639 Nystagmus Rhythmic, involuntary oscillations of one or both eyes related to abnormality in fixation, conjugate gaze, or vestibular mechanisms.
HP:0000518 Cataract A cataract is an opacity or clouding that develops in the crystalline lens of the eye or in its capsule.
HP:0000602 Ophthalmoplegia Paralysis of one or more extraocular muscles that are responsible for eye movements.
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:0000662 Nyctalopia Inability to see well at night or in poor light.
HP:0007737 Bone spicule pigmentation of the retina Pigment migration into the retina in a bone-spicule configuration (resembling the nucleated cells within the lacuna of bone).
HP:0000035 Abnormal testis morphology An anomaly of the testicle (the male gonad).
HP:0000603 Central scotoma An area of depressed vision located at the point of fixation and that interferes with central vision.
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:0008736 Hypoplasia of penis
HP:0001513 Obesity Accumulation of substantial excess body fat.
HP:0000135 Hypogonadism A decreased functionality of the gonad.
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:0001347 Hyperreflexia Hyperreflexia is the presence of hyperactive stretch reflexes of the muscles.
HP:0000512 Abnormal electroretinogram Any abnormality of the electrical responses of various cell types in the retina as measured by electroretinography.
HP:0007787 Posterior subcapsular cataract A type of cataract affecting the posterior pole of lens immediately adjacent to ('beneath') the Lens capsule.

GDF2 NM_016204.4   Gène complet - Taille : 5,134 bases


sHet : 0.009 pHaplo : 0.16 pTriplo : 0.23
Localisation : 48,411,774 - 48,416,908

Base de donnée :

DecipherGenomics PanelApp OMIM:605120 GTEx Portal Human Protein Atlas Ensembl

Human Phenotype Ontology   Montrer/Cacher

HP:0002092 Pulmonary arterial hypertension Pulmonary hypertension is defined mean pulmonary artery pressure of 25mmHg or more and pulmonary capillary wedge pressure of 15mmHg or less when measured by right heart catheterisation at rest and in a supine position.
HP:0100659 Abnormal cerebral vascular morphology An anomaly of the cerebral blood vessels.
HP:0001409 Portal hypertension Increased pressure in the portal vein.
HP:0002040 Esophageal varix Extreme dilation of the submucusoal veins in the lower portion of the esophagus.
HP:0011025 Abnormal cardiovascular system physiology Abnormal functionality of the cardiovascular system.
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:0000787 Nephrolithiasis The presence of calculi (stones) in the kidneys.
HP:0000421 Epistaxis Epistaxis, or nosebleed, refers to a hemorrhage localized in the nose.
HP:0007420 Spontaneous hematomas Spontaneous development of hematomas (hematoma) or bruises without significant trauma.
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:0001082 Cholecystitis The presence of inflammatory changes in the gallbladder.
HP:0001342 Cerebral hemorrhage Hemorrhage into the parenchyma of the brain.
HP:0001009 Telangiectasia Telangiectasias refer to small dilated blood vessels located near the surface of the skin or mucous membranes, measuring between 0.5 and 1 millimeter in diameter. Telangiectasia are located especially on the tongue, lips, palate, fingers, face, conjunctiva, trunk, nail beds, and fingertips.
HP:0000524 Conjunctival telangiectasia The presence of small (ca. 0.5-1.0 mm) dilated blood vessels near the surface of the mucous membranes of the conjunctiva.
HP:0002138 Subarachnoid hemorrhage Hemorrhage occurring between the arachnoid mater and the pia mater.
HP:0100585 Telangiectasia of the skin Presence of small, permanently dilated blood vessels near the surface of the skin, visible as small focal red lesions.
HP:0100761 Visceral angiomatosis
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:0001635 Congestive heart failure The presence of an abnormality of cardiac function that is responsible for the failure of the heart to pump blood at a rate that is commensurate with the needs of the tissues or a state in which abnormally elevated filling pressures are required for the heart to do so. Heart failure is frequently related to a defect in myocardial contraction.
HP:0002105 Hemoptysis Coughing up (expectoration) of blood or blood-streaked sputum from the larynx, trachea, bronchi, or lungs.
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: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:0001048 Cavernous hemangioma The presence of a cavernous hemangioma. A hemangioma characterized by large endothelial spaces (caverns) is called a cavernous hemangioma.
HP:0100784 Peripheral arteriovenous fistula
HP:0002204 Pulmonary embolism An embolus (that is, an abnormal particle circulating in the blood) located in the pulmonary artery and thereby blocking blood circulation to the lung. Usually the embolus is a blood clot that has developed in an extremity (for instance, a deep venous thrombosis), detached, and traveled through the circulation before becoming trapped in the pulmonary artery.
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:0001399 Hepatic failure
HP:0004936 Venous thrombosis Formation of a blood clot (thrombus) inside a vein, causing the obstruction of blood flow.
HP:0100026 Arteriovenous malformation An anomalous configuration of blood vessels that shunts arterial blood directly into veins without passing through the capillaries.
HP:0001935 Microcytic anemia A kind of anemia in which the volume of the red blood cells is reduced.
HP:0002326 Transient ischemic attack
HP:0200008 Intestinal polyposis The presence of multiple polyps in the intestine.
HP:0004406 Spontaneous, recurrent epistaxis
HP:0002239 Gastrointestinal hemorrhage Hemorrhage affecting the gastrointestinal tract.
HP:0002076 Migraine Migraine is a chronic neurological disorder characterized by episodic attacks of headache and associated symptoms.
HP:0001081 Cholelithiasis Hard, pebble-like deposits that form within the gallbladder.
HP:0007763 Retinal telangiectasia Dilatation of small blood vessels of the retina.
HP:0100579 Mucosal telangiectasiae Telangiectasia of the mucosa, the mucous membranes which are involved in absorption and secretion that line cavities that are exposed to the external environment and internal organs.

NPY4R NM_005972.6   Gène complet - Taille : 4,863 bases


pLI : 0 LOEUF : 1.75 sHet : 0.004 pHaplo : 0.14 pTriplo : 0.25
Localisation : 47,083,457 - 47,088,320

Base de donnée :

DecipherGenomics OMIM:601790 GTEx Portal Human Protein Atlas Ensembl


104 Gène(s) Non-OMIM chevauché(s)

NOVEL
Taille : 162,265 bases


Localisation : 47,011,753 - 47,174,018

ENSG00000289143
Taille : 130,349 bases


Localisation : 49,218,162 - 49,348,511

KNOWN
Taille : 91,090 bases


Localisation : 46,549,955 - 46,641,045

KNOWN
Taille : 91,092 bases


Localisation : 48,736,874 - 48,827,966

ENSG00000289444
Taille : 103,796 bases


Localisation : 49,244,696 - 49,348,492

ZFAND4
Taille : 57,280 bases

pLI : 0 LOEUF : 1.06 pHaplo : 0.09 pTriplo : 0.25
Localisation : 46,110,948 - 46,168,228

KNOWN
Taille : 62,078 bases


Localisation : 46,349,541 - 46,411,619

KNOWN
Taille : 55,389 bases


Localisation : 47,894,023 - 47,949,412

KNOWN
Taille : 53,415 bases


Localisation : 48,001,603 - 48,055,018

KNOWN
Taille : 49,870 bases


Localisation : 48,901,102 - 48,950,972

PTPN20CP
Taille : 55,150 bases


Localisation : 49,272,348 - 49,327,498

KNOWN
Taille : 47,894 bases


Localisation : 47,191,844 - 47,239,738

NOVEL
Taille : 35,697 bases


Localisation : 47,207,805 - 47,243,502

KNOWN
Taille : 40,985 bases


Localisation : 47,379,727 - 47,420,712

ANTXRLP1
Taille : 39,672 bases


Localisation : 47,605,121 - 47,644,793

ANTXRL
Taille : 43,862 bases

pHaplo : 0.25 pTriplo : 0.32
Localisation : 47,657,581 - 47,701,443

FAM245B
Taille : 30,723 bases


Localisation : 48,119,958 - 48,150,681

KNOWN
Taille : 47,896 bases


Localisation : 48,189,612 - 48,237,508

LINC02675
Taille : 30,813 bases


Localisation : 48,987,624 - 49,018,437

ENSG00000290899
Taille : 34,945 bases


Localisation : 49,313,240 - 49,348,185

AGAP10P
Taille : 21,840 bases


Localisation : 46,174,140 - 46,195,980

FAM21FP
Taille : 16,008 bases


Localisation : 46,201,879 - 46,217,887

AGAP4
Taille : 28,281 bases

pHaplo : 0.14 pTriplo : 0.24
Localisation : 46,321,042 - 46,349,323

KNOWN
Taille : 24,468 bases


Localisation : 46,657,135 - 46,681,603

KNOWN
Taille : 15,946 bases


Localisation : 46,717,127 - 46,733,073

KNOWN
Taille : 23,593 bases


Localisation : 46,737,612 - 46,761,205

SHLD2P1
Taille : 20,974 bases


Localisation : 46,918,169 - 46,939,143

ENSG00000229227
Taille : 14,236 bases


Localisation : 46,937,463 - 46,951,699

SYT15-AS1
Taille : 17,442 bases


Localisation : 46,951,467 - 46,968,909

SYT15B
Taille : 18,889 bases


Localisation : 46,952,511 - 46,971,400

KNOWN
Taille : 16,110 bases


Localisation : 47,157,983 - 47,174,093

KNOWN
Taille : 13,576 bases


Localisation : 47,228,366 - 47,241,942

NOVEL
Taille : 10,760 bases


Localisation : 47,279,073 - 47,289,833

AGAP14P
Taille : 21,480 bases


Localisation : 47,708,453 - 47,729,933

ENSG00000279458
Taille : 11,909 bases


Localisation : 47,741,976 - 47,753,885

KNOWN
Taille : 16,105 bases


Localisation : 47,746,936 - 47,763,041

NOVEL
Taille : 23,909 bases


Localisation : 47,746,962 - 47,770,871

KNOWN
Taille : 11,840 bases


Localisation : 48,187,416 - 48,199,256

KNOWN
Taille : 12,880 bases


Localisation : 48,249,334 - 48,262,214

NOVEL
Taille : 23,920 bases


Localisation : 48,255,279 - 48,279,199

ZNF488
Taille : 18,797 bases

sHet : 0.009 pHaplo : 0.21 pTriplo : 0.45
Localisation : 48,355,069 - 48,373,866

ENSG00000289299
Taille : 17,549 bases


Localisation : 48,514,368 - 48,531,917

KNOWN
Taille : 24,468 bases


Localisation : 48,844,036 - 48,868,504

KNOWN
Taille : 27,778 bases


Localisation : 48,952,491 - 48,980,269

AGAP12P
Taille : 21,719 bases


Localisation : 49,217,898 - 49,239,617

AGAP12P
Taille : 21,501 bases


Localisation : 49,218,157 - 49,239,658

BMS1P7
Taille : 9,756 bases


Localisation : 49,258,304 - 49,268,060

ENSG00000290460
Taille : 9,205 bases


Localisation : 46,213,474 - 46,222,679

ENSG00000228702
Taille : 344 bases


Localisation : 46,221,142 - 46,221,486

ENSG00000270434
Taille : 296 bases


Localisation : 46,308,096 - 46,308,392

FAM25E
Taille : 1,896 bases

pHaplo : 0.09 pTriplo : 0.35
Localisation : 46,310,876 - 46,312,772

FAM25E
Taille : 1,763 bases

pHaplo : 0.09 pTriplo : 0.35
Localisation : 46,310,934 - 46,312,697

RNA5SP310
Taille : 115 bases


Localisation : 46,351,755 - 46,351,870

KNOWN
Taille : 115 bases


Localisation : 46,742,028 - 46,742,143

KNOWN
Taille : 6,100 bases


Localisation : 46,772,794 - 46,778,894

KNOWN
Taille : 1,759 bases


Localisation : 46,773,447 - 46,775,206

KNOWN
Taille : 1,118 bases


Localisation : 46,790,404 - 46,791,522

KNOWN
Taille : 283 bases


Localisation : 46,900,386 - 46,900,669

LINC02637
Taille : 3,085 bases


Localisation : 46,914,145 - 46,917,230

RHEBP1
Taille : 555 bases


Localisation : 46,914,151 - 46,914,706

ENSG00000290913
Taille : 9,216 bases


Localisation : 46,914,472 - 46,923,688

NPY4R2
Taille : 4,863 bases


Localisation : 47,083,457 - 47,088,320

HNRNPA1P33
Taille : 560 bases


Localisation : 47,133,338 - 47,133,898

ENSG00000273760
Taille : 3,451 bases


Localisation : 47,135,135 - 47,138,586

KNOWN
Taille : 297 bases


Localisation : 47,174,442 - 47,174,739

KNOWN
Taille : 4,477 bases


Localisation : 47,177,204 - 47,181,681

NOVEL
Taille : 5,982 bases


Localisation : 47,186,203 - 47,192,185

KNOWN
Taille : 115 bases


Localisation : 47,222,341 - 47,222,456

KNOWN
Taille : 1,760 bases


Localisation : 47,254,247 - 47,256,007

KNOWN
Taille : 1,120 bases


Localisation : 47,271,222 - 47,272,342

KNOWN
Taille : 283 bases


Localisation : 47,382,464 - 47,382,747

KNOWN
Taille : 599 bases


Localisation : 47,396,223 - 47,396,822

KNOWN
Taille : 3,359 bases


Localisation : 47,570,513 - 47,573,872

KNOWN
Taille : 1,272 bases


Localisation : 47,594,379 - 47,595,651

KNOWN
Taille : 1,149 bases


Localisation : 47,656,084 - 47,657,233

FAM25BP
Taille : 4,437 bases


Localisation : 47,740,330 - 47,744,767

ENSG00000290780
Taille : 3,260 bases


Localisation : 47,741,564 - 47,744,824

KNOWN
Taille : 1,563 bases


Localisation : 47,965,760 - 47,967,323

CTSLP2
Taille : 6,142 bases


Localisation : 48,152,549 - 48,158,691

KNOWN
Taille : 1,107 bases


Localisation : 48,157,041 - 48,158,148

KNOWN
Taille : 6,145 bases


Localisation : 48,169,665 - 48,175,810

KNOWN
Taille : 1,759 bases


Localisation : 48,173,347 - 48,175,106

KNOWN
Taille : 115 bases


Localisation : 48,206,895 - 48,207,010

KNOWN
Taille : 4,474 bases


Localisation : 48,247,669 - 48,252,143

KNOWN
Taille : 299 bases


Localisation : 48,254,606 - 48,254,905

KNOWN
Taille : 7,409 bases


Localisation : 48,324,788 - 48,332,197

KNOWN
Taille : 674 bases


Localisation : 48,357,926 - 48,358,600

NOVEL
Taille : 98 bases


Localisation : 48,387,524 - 48,387,622

KNOWN
Taille : 115 bases


Localisation : 48,931,789 - 48,931,904

ENSG00000265630
Taille : 6,096 bases


Localisation : 48,962,529 - 48,968,625

KNOWN
Taille : 946 bases


Localisation : 48,963,181 - 48,964,127

KNOWN
Taille : 1,111 bases


Localisation : 48,980,162 - 48,981,273

KNOWN
Taille : 7,117 bases


Localisation : 49,087,398 - 49,094,515

KNOWN
Taille : 283 bases


Localisation : 49,090,136 - 49,090,419

FAM25C
Taille : 4,470 bases

pHaplo : 0.09 pTriplo : 0.39
Localisation : 49,203,355 - 49,207,825

RNA5SP315
Taille : 115 bases


Localisation : 49,248,476 - 49,248,591

NOVEL
Taille : 809 bases


Localisation : 49,363,368 - 49,364,177

ENSG00000285786
Taille : 1,987 bases


Localisation : 49,454,568 - 49,456,555

RPS6P14
Taille : 718 bases


Localisation : 49,500,742 - 49,501,460

ENSG00000279822
Taille : 1,984 bases


Localisation : 49,651,879 - 49,653,863

ARHGAP22-IT1
Taille : 1,064 bases


Localisation : 49,718,568 - 49,719,632

ENSG00000231906
Taille : 241 bases


Localisation : 49,754,517 - 49,754,758

ENSG00000251413
Taille : 1,089 bases


Localisation : 49,832,049 - 49,833,138

ENSG00000236800
Taille : 8,225 bases


Localisation : 49,872,244 - 49,880,469

17 ClinGen CNV chevauché(s) (>=70% seulement)

0 Bénin CNV    0 Probablement bénin CNV    1 Incertain CNV    3 Probablement pathogénique CNV    12 Pathogénique CNV

#1 Pathogenic (nssv583185)
Localisation : 46,205,689 - 51,330,432 | Taille : 5,124,743 bases

Score : 0

Moyenne des chevauchements : 83 %


#2 Pathogenic (10q11.22-11.23)
Localisation : 46,491,168 - 51,081,560 | Taille : 4,590,392 bases

Score : 1

Moyenne des chevauchements : 81 %


#3 Pathogenic (nssv13646749)
Localisation : 46,224,445 - 51,594,991 | Taille : 5,370,546 bases

Score : 0

Moyenne des chevauchements : 80 %


#4 Pathogenic (nssv706778)
Localisation : 46,205,695 - 51,724,915 | Taille : 5,519,220 bases

Score : 0

Moyenne des chevauchements : 79 %


#5 Pathogenic (10q11.22-11.23)
Localisation : 46,287,820 - 51,627,470 | Taille : 5,339,650 bases

Score : 0

Moyenne des chevauchements : 79 %


#6 not provided (10q11.22-11.23)
Localisation : 46,321,317 - 51,595,050 | Taille : 5,273,733 bases

Score : 0

Moyenne des chevauchements : 79 %


#7 Pathogenic (nssv579668)
Localisation : 46,205,689 - 51,911,085 | Taille : 5,705,396 bases

Score : 1

Moyenne des chevauchements : 78 %


#8 Pathogenic (10q11.22-11.23)
Localisation : 46,225,363 - 51,874,356 | Taille : 5,648,993 bases

Score : 0

Moyenne des chevauchements : 78 %


#9 Pathogenic (10q11.22-11.23)
Localisation : 46,235,356 - 51,874,163 | Taille : 5,638,807 bases

Score : 0

Moyenne des chevauchements : 78 %


#10 Likely pathogenic (10q11.22-11.23)
Localisation : 46,269,492 - 51,874,356 | Taille : 5,604,864 bases

Score : 1

Moyenne des chevauchements : 77 %


#11 Pathogenic (10q11.22-11.23)
Localisation : 46,287,820 - 51,861,565 | Taille : 5,573,745 bases

Score : 0

Moyenne des chevauchements : 77 %


#12 Pathogenic (nssv583520)
Localisation : 46,491,168 - 51,594,991 | Taille : 5,103,823 bases

Score : 0

Moyenne des chevauchements : 77 %


#13 Uncertain significance (nssv1610028)
Localisation : 46,476,964 - 51,724,915 | Taille : 5,247,951 bases

Score : 0

Moyenne des chevauchements : 76 %


#14 Likely pathogenic (nssv1495736)
Localisation : 46,476,964 - 51,724,915 | Taille : 5,247,951 bases

Score : 0

Moyenne des chevauchements : 76 %


#15 Likely pathogenic (nssv1602988)
Localisation : 46,491,168 - 51,664,079 | Taille : 5,172,911 bases

Score : 0

Moyenne des chevauchements : 76 %


#16 Pathogenic (10q11.22-11.23)
Localisation : 46,544,809 - 51,743,471 | Taille : 5,198,662 bases

Score : 1

Moyenne des chevauchements : 75 %


#17 Pathogenic (10q11.22-11.23)
Localisation : 46,576,514 - 51,680,164 | Taille : 5,103,650 bases

Score : 0
Phénotype : Telangiectasia,hereditary hemorrhagic,type 5

Moyenne des chevauchements : 75 %



13 Decipher CNV chevauché(s) (>=70% seulement)

0 Bénin CNV    5 Inconnu CNV    4 Incertain CNV    4 Pathogénique CNV

#1 : unknown
Localisation : 46,248,489 - 51,572,974 | Taille : 5,324,485 bases

Identifiant patient : 254072
Genre : Inconnu
Phénotype : Glossoptosis, Cleft palate, Epicanthus, Hypertelorism, Micrognathia

Moyenne des chevauchements : 80 %


#2 : uncertain
Localisation : 46,205,719 - 51,911,060 | Taille : 5,705,341 bases

Identifiant patient : 339993
Genre : Inconnu
Phénotype : Strabismus, Seizure, Mild global developmental delay

Moyenne des chevauchements : 78 %


#3 : pathogenic
Localisation : 46,241,892 - 51,829,561 | Taille : 5,587,669 bases

Identifiant patient : 295571
Genre : Inconnu
Phénotype : Otitis media, Joint hypermobility, Short stature, Attention deficit hyperactivity disorder, Moderate global developmental delay

Moyenne des chevauchements : 78 %


#4 : pathogenic
Localisation : 46,241,892 - 51,829,561 | Taille : 5,587,669 bases

Identifiant patient : 295573
Genre : Inconnu
Phénotype : Moderate global developmental delay

Moyenne des chevauchements : 78 %


#5 : uncertain
Localisation : 46,264,301 - 51,780,909 | Taille : 5,516,608 bases

Identifiant patient : 410947
Genre : Inconnu
Phénotype : Autistic behavior, Loss of speech

Moyenne des chevauchements : 78 %


#6 : pathogenic
Localisation : 46,241,892 - 52,000,417 | Taille : 5,758,525 bases

Identifiant patient : 295572
Genre : Inconnu
Phénotype : Joint hypermobility, Short stature, Dyslexia, Moderate global developmental delay

Moyenne des chevauchements : 77 %


#7 : unknown
Localisation : 46,283,685 - 51,822,906 | Taille : 5,539,221 bases

Identifiant patient : 259254
Genre : Inconnu
Phénotype : Low\-set ears, Blepharophimosis, Pectus carinatum, Gynecomastia, Single transverse palmar crease, Hypotonia, Short stature

Moyenne des chevauchements : 77 %


#8 : pathogenic
Localisation : 46,287,820 - 51,861,466 | Taille : 5,573,646 bases

Identifiant patient : 327088
Genre : Inconnu
Phénotype : Protruding ear, Congenital nystagmus, Uplifted earlobe, Unilateral microphthalmos, Anteverted ears

Moyenne des chevauchements : 77 %


#9 : unknown
Localisation : 46,287,820 - 51,874,356 | Taille : 5,586,536 bases

Identifiant patient : 263485
Genre : Inconnu

Moyenne des chevauchements : 77 %


#10 : unknown
Localisation : 46,405,261 - 51,780,901 | Taille : 5,375,640 bases

Identifiant patient : 260106
Genre : Inconnu
Phénotype : Impaired social interactions, Specific learning disability, Cognitive impairment

Moyenne des chevauchements : 76 %


#11 : unknown
Localisation : 46,342,336 - 52,020,271 | Taille : 5,677,935 bases

Identifiant patient : 273399
Genre : Inconnu
Phénotype : High palate, Short philtrum, Low\-set ears, Abnormality of the pinna, Strabismus, Myopia, Soft skin, Seizure, Intellectual disability, moderate, Inverted nipples, Posterior plagiocephaly, Anteverted ears

Moyenne des chevauchements : 75 %


#12 : uncertain
Localisation : 46,215,429 - 52,467,181 | Taille : 6,251,752 bases

Identifiant patient : 402953
Genre : Inconnu

Moyenne des chevauchements : 73 %


#13 : uncertain
Localisation : 46,215,429 - 52,467,181 | Taille : 6,251,752 bases

Identifiant patient : 404263
Genre : Inconnu

Moyenne des chevauchements : 73 %



1 Gène(s) dans la base SFARI

WDFY4   SFARI Localisation : 49,892,918 - 50,191,001 | Taille : 298,083 bases
Exons 1->1 / 62

Pas de donnée sur la syndromicité

Score du gène : 2
 Rapports : 8



1 DGV-Gold chévauché(s) (>=50% seulement)

DGV-Gold #1
Localisation : 46,719,449 - 49,176,867 | Taille : 2,457,418 bases

Fréquence dans la population : 3.17 %
Rang : 9

Moyenne des chevauchements : 79 %



1 DGV chevauché(s) (>=50% seulement)

DGV #1
Localisation : 46,680,255 - 49,378,479 | Taille : 2,698,224 bases

Moyenne des chevauchements : 83 %



1 Cas Patient (>=70% seulement)

47,006,953 - 51,330,432
Taille : 4,323,479 bases
7 Rapports

Moyenne des chevauchements : 71 %


1 Cas Contrôle (>=70% seulement)

nssv3707830
Localisation : 46527664 - 51911841 | Taille : 5384177 bases

Moyenne des chevauchements : 73 %



4 Gène(s) dans la base PanelApp

MAPK8   PanelApp Exons 1->12 / 12 - Taille : 132,721 bases

Confiance Maladie Transmission héréditaire Phénotype Preuve
Basse Primary immunodeficiency or monogenic inflammatory bowel disease MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

- chronic mucocutaneous candidiasis

- connective tissue disorders

- Expert Review Red

- Literature

SYT15   PanelApp Gène complet - Taille : 15,956 bases

Confiance Maladie Transmission héréditaire Phénotype Preuve
Basse Congenital myaesthenic syndrome

- Expert Review Red

- NHS GMS

- Wessex and West Midlands GLH

RBP3   PanelApp Gène complet - Taille : 9,518 bases

Confiance Maladie Transmission héréditaire Phénotype Preuve
Basse Glaucoma (developmental)

- Eye Disorders

- NHS GMS

- Emory Genetics Laboratory
Haute Retinal disorders BIALLELIC, autosomal or pseudoautosomal

- Eye Disorders

- Retinitis Pigmentosa, Recessive

- Retinitis pigmentosa

- ?Retinitis pigmentosa 66, 615233

- NHS GMS

- Expert Review Green
Basse Structural eye disease BIALLELIC, autosomal or pseudoautosomal

- ?Retinitis pigmentosa 66, 615233

- Eye Disorders

- NHS GMS

- Expert Review Red

GDF2   PanelApp Gène complet - Taille : 5,134 bases

Confiance Maladie Transmission héréditaire Phénotype Preuve
Moyenne Cerebral vascular malformations MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

- Telangiectasia, hereditary hemorrhagic, type 5, OMIM:615506

- Yorkshire and North East GLH

- NHS GMS

- Expert Review Amber

- Radboud University Medical Center, Nijmegen

- UKGTN

- Emory Genetics Laboratory
Haute Hereditary haemorrhagic telangiectasia MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

- Telangiectasia, hereditary hemorrhagic, type 5 OMIM:615506

- telangiectasia, hereditary hemorrhagic, type 5 MONDO:0014217

- Expert Review Green

- NHS GMS

- Expert Review

- Radboud University Medical Center, Nijmegen

- UKGTN

- Emory Genetics Laboratory
Haute Pulmonary arterial hypertension MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

- Heritable pulmonary arterial hypertension

- HPAH

- NHS GMS

- Expert Review Green

- Literature
Basse Fetal anomalies BIALLELIC, autosomal or pseudoautosomal

- Lymphatic dysplasia

- hydrothorax

- hydrops

- Expert Review Red

- Literature



Score ClassifyCNV ACMG

Incertain

ClassifyCNV Critères de ClassifyCNV ACMG

2H
+ 0.15

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

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.

Score AnnotSV

Pathogénique

AnnotSV Critères de ClassifyCNV ACMG

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.