Cholestasis

Gene: JAG1

Green List (high evidence)

JAG1 (jagged 1)
EnsemblGeneIds (GRCh38): ENSG00000101384
EnsemblGeneIds (GRCh37): ENSG00000101384
OMIM: 601920, Gene2Phenotype
JAG1 is in 17 panels

6 reviews

Ivone Leong (Genomics England Curator)

Green List (high evidence)

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 given
Created: 7 Jan 2019, 4:42 p.m.

Louise Daugherty (Genomics England Curator)

Comment on phenotypes: added OMIM MIMid
Created: 25 Jul 2018, 2:33 p.m.
Comment on mode of inheritance: updated MOI from external clinical review to not imprinted
Created: 25 Jul 2018, 2:32 p.m.

Anna de Burca (Genomics England Curator)

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)

Green List (high evidence)

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)

Green List (high evidence)

All sorts of variants reported.
Good diagnostic rate in our cohort; 7/160 patients
Created: 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)

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Alagille syndrome

Variants in this GENE are reported as part of current diagnostic practice

History Filter Activity

31 Jan 2019, Gel status: 3

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

Gene: jag1 has been classified as Green List (High Evidence).

14 Jan 2019, Gel status: 4

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

7 Jan 2019, Gel status: 3

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)

7 Jan 2019, Gel status: 1

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