Cholestasis
Gene: JAG1
Comment when marking as ready: As discussed in the GMS Gastrohepatology Specialist Test Group webex call 14th Jan 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene green.Created: 31 Jan 2019, 10:36 a.m.
Initial gene list and info collated by Miranda Durkie Sheffield Diagnostic Genetics Service December 2018 on behalf of the GMS Gastrohepatology specialist test group. Gene Symbol submitted: JAG1; Suggested intial gene rating: Green; Evidence for inclusion: none given; Evidence for exclusion: none given; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none givenCreated: 7 Jan 2019, 4:42 p.m.
Comment 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
Gene: jag1 has been classified as Green List (High Evidence).
Mode of inheritance for gene JAG1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Added phenotypes Alagille syndrome 1, 118450; Neonatal and Adult Cholestasis; Alagille syndrome for gene: JAG1 Publications for gene JAG1 were changed from to 23881058
Source Expert Review Green was added to JAG1. Rating Changed from Red List (low evidence) to Green List (high evidence)
gene: JAG1 was added gene: JAG1 was added to Cholestasis. Sources: NHS GMS Mode of inheritance for gene: JAG1 was set to