Neonatal cholestasis
Gene: JAG1Comment on phenotypes: added OMIM MIMidCreated: 25 Jul 2018, 2:33 p.m.
Comment on mode of inheritance: updated MOI from external clinical review to not imprintedCreated: 25 Jul 2018, 2:32 p.m.
Comment on list classification: Major cause of Alagille syndrome; the phenotype includes cholestatic liver disease (characterized by bile duct paucity).Created: 25 Jul 2018, 12:04 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Alagille syndrome
Variants in this GENE are reported as part of current diagnostic practice
All sorts of variants reported.
Good diagnostic rate in our cohort; 7/160 patientsCreated: 4 Jun 2018, 12:24 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Alagille syndrome; cholestasis
Variants in this GENE are reported as part of current diagnostic practice
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Alagille syndrome
Variants in this GENE are reported as part of current diagnostic practice
Phenotypes for gene: JAG1 were changed from Alagille syndrome; Neonatal and Adult Cholestasis; Alagille syndrome 1, 118450 to Alagille syndrome 1, OMIM:118450; Neonatal and Adult Cholestasis
This panel has been subjected to extensive internal and external review.
Phenotypes for gene: JAG1 were set to Alagille syndrome; Neonatal and Adult Cholestasis; Alagille syndrome 1, 118450
Phenotypes for gene: JAG1 were set to Alagille syndrome, 118450; Neonatal and Adult Cholestasis; Alagille syndrome 1
Mode of inheritance for gene: JAG1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Gene: jag1 has been classified as Green List (High Evidence).
Publications for gene: JAG1 were set to 23881058
Gene: jag1 has been classified as Green List (High Evidence).
Victorian Clinical Genetics Services was added to JAG1. Panel: Cholestasis
UKGTN was added to JAG1. Panel: Cholestasis Model of inheritance for gene JAG1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene JAG1 were set to Alagille syndrome, Neonatal and Adult Cholestasis, Alagille syndrome 1
Emory Genetics Laboratory was added to JAG1. Panel: Cholestasis Phenotypes for gene JAG1 were set to Alagille syndrome, Neonatal and Adult Cholestasis
JAG1 was added to Cholestasis panel. Sources: Other
JAG1 was created by Ellen Thomas