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Hearing loss

Gene: JAG1

Red List (low evidence)

JAG1 (jagged 1)
EnsemblGeneIds (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

Sources
  • Expert
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Alagille syndrome, 118450Deafness, congenital heart defects and posterior embryotoxonTetralogy of Fallot, 187500
  • Alagillesyndrome,118450TetralogyofFallot,187500Deafness,congenitalheartdefects,andposteriorembryotoxon
OMIM
601920
Clinvar variants
Variants in JAG1
Penetrance
Complete
Panels with this gene

History Filter Activity

24 Jun 2015, Gel status: 1

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

24 Jun 2015, Gel status: 1

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