Cholestasis
Gene: JAG1EnsemblGeneIds (GRCh38): ENSG00000101384
EnsemblGeneIds (GRCh37): ENSG00000101384
OMIM: 601920, Gene2Phenotype
JAG1 is in 15 panels
6 reviews
Ivone Leong (Genomics England Curator)
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.
Louise Daugherty (Genomics England Curator)
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.
Anna de Burca (Oxford University Hospitals NHS Foundation Trust)
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.
Jane Hartley (Birmingham Women and Children's Hospital)
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Alagille syndrome
Variants in this GENE are reported as part of current diagnostic practice
Thalia Antoniadi (West Midlands Regional Genetics Laboratory)
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
Ellen Thomas (Genomics England Curator)
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Alagille syndrome
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- NHS GMS
- Phenotypes
-
- Alagille syndrome 1, OMIM:118450
- Neonatal and Adult Cholestasis
- OMIM
- 601920
- Clinvar variants
- Variants in JAG1
- Penetrance
- None
- Publications
- 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 Phenotypes
Arina Puzriakova (Genomics England Curator)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
Entity classified by Genomics England curator
Ivone Leong (Genomics England Curator)Gene: jag1 has been classified as Green List (High Evidence).
Set mode of inheritance, Set Phenotypes, Set publications
Ivone Leong (Genomics England Curator)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
Added New Source, Status Update
Ivone Leong (Genomics England Curator)Source Expert Review Green was added to JAG1. Rating Changed from Red List (low evidence) to Green List (high evidence)
Created, Added New Source, Set mode of inheritance
Ivone Leong (Genomics England Curator)gene: JAG1 was added gene: JAG1 was added to Cholestasis. Sources: NHS GMS Mode of inheritance for gene: JAG1 was set to