Monogenic hearing loss
Gene: JAG1EnsemblGeneIds (GRCh38): ENSG00000101384
EnsemblGeneIds (GRCh37): ENSG00000101384
OMIM: 601920, Gene2Phenotype
JAG1 is in 15 panels
1 review
Jun Shen (Harvard Medical School)
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
#118450:Alagille syndrome[Failure to thrive; Broad foreheadTriangular faceProminent zygomatic arch; Large ears; Deep-set eyesHypertelorismUpslanting palpebral fissuresPosterior embryotoxonAnterior chamber anomaliesEccentric or ectopic pupilsChorioretinal atrophyBand keratopathyCataractsRetinal pigment clumpingAxenfeld anomalyMicrocorneaChoroidal foldsStrabismusMyopiaAnomalous optic disc; Depressed nasal bridgeLong nose with bulbous tip; Peripheral pulmonary artery stenosisAtrial septal defectVentricular septal defectTetralogy of FallotCoarctation of aorta; Cerebrovascular accidentsMoyamoya syndrome; Rib anomalies; CholestasisIntrahepatic duct deficiencyLiver disease, progressiveCirrhosis; Pancreatic insufficiency; Extrahepatic duct involvement; Renal involvement (in 39%)Small kidneysEchogenic kidneysRenal dysplasiaVesicoureteral refluxRenal tubular acidosisUrinary obstructionRenal mesangiolipidosisMedullary cystic disease; Vertebral anomaliesButterfly vertebral archHemivertebrae; Short ulnae; Short distal phalanges; Jaundice, neonatalXanthomas (in some patients); Mental retardation, mild, (in some patients)Learning disability; Absent deep tendon reflexes; Hepatocellular carcinomaPapillary thyroid carcinoma; Increased conjugated bilirubinHypercholesterolemiaHypertriglyceridemiaElevated transaminases]; #187500:Tetralogy of Fallot[Tetralogy of Fallot; Preauricular pits; Fifth finger clinodactyly; Broad forehead; Prominent eyes; Sib recurrence risk of 1% for tetralogy and 2% for any congenital heart defect]; #:?Deafness, congenital heart defects, and posterior embryotoxon
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert
- Radboud University Medical Center, Nijmegen
- Phenotypes
-
- ?Deafness, congenital heart defects, and posterior embryotoxon, OMIM:617992
- OMIM
- 601920
- Clinvar variants
- Variants in JAG1
- Penetrance
- Complete
- Panels with this gene
-
- CAKUT
- Cholestasis
- Hereditary neuropathy
- Tubulointerstitial kidney disease
- Familial non syndromic congenital heart disease
- DDG2P
- Intellectual disability
- Cerebral vascular malformations
- Retinal disorders
- Ductal plate malformation
- Monogenic hearing loss
- Neonatal cholestasis
- Fetal anomalies
- Hereditary neuropathy or pain disorder
- Rare syndromic craniosynostosis or isolated multisuture synostosis
History Filter Activity
Set mode of inheritance
Arina Puzriakova (Genomics England Curator)Mode of inheritance for gene: JAG1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: JAG1 were changed from Alagille syndrome, 118450Deafness, congenital heart defects and posterior embryotoxonTetralogy of Fallot, 187500; Alagillesyndrome,118450TetralogyofFallot,187500Deafness,congenitalheartdefects,andposteriorembryotoxon to ?Deafness, congenital heart defects, and posterior embryotoxon, OMIM:617992
Added New Source
Ellen McDonagh (Genomics England Curator)JAG1 was added to Congenital hearing impairment (Profound/Severe)panel. Sources: Radboud University Medical Center, Nijmegen,Expert
Added New Source
Ellen McDonagh (Genomics England Curator)JAG1 was added to Congenital hearing impairment (Profound/Severe)panel. Sources: Radboud University Medical Center, Nijmegen,Expert