Neonatal cholestasis

Gene: JAG1

Green List (high evidence)

JAG1 (jagged 1)
EnsemblGeneIds (GRCh38): ENSG00000101384
EnsemblGeneIds (GRCh37): ENSG00000101384
OMIM: 601920, Gene2Phenotype
JAG1 is in 16 panels

5 reviews

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

3 Sep 2018, Gel status: 3

Panel promoted to version 1.0

Sarah Leigh (Genomics England Curator)

This panel has been subjected to extensive internal and external review.

25 Jul 2018, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for gene: JAG1 were set to Alagille syndrome; Neonatal and Adult Cholestasis; Alagille syndrome 1, 118450

25 Jul 2018, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for gene: JAG1 were set to Alagille syndrome, 118450; Neonatal and Adult Cholestasis; Alagille syndrome 1

25 Jul 2018, Gel status: 3

Set mode of inheritance

Louise Daugherty (Genomics England Curator)

Mode of inheritance for gene: JAG1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

25 Jul 2018, Gel status: 3

Entity classified by Genomics England curator

Anna de Burca (Genomics England Curator)

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

25 Jul 2018, Gel status: 3

Set publications

Anna de Burca (Genomics England Curator)

Publications for gene: JAG1 were set to 23881058

25 Jul 2018, Gel status: 3

Entity classified by Genomics England curator

Anna de Burca (Genomics England Curator)

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

21 Jun 2018, Gel status: 2

Added New Source

Ellen McDonagh (Genomics England Curator)

Victorian Clinical Genetics Services was added to JAG1. Panel: Cholestasis

18 May 2018, Gel status: 2

Added New Source, Set mode of inheritance, Set penetrance

Ellen McDonagh (Genomics England Curator)

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

18 May 2018, Gel status: 1

Added New Source, Set penetrance

Ellen McDonagh (Genomics England Curator)

Emory Genetics Laboratory was added to JAG1. Panel: Cholestasis Phenotypes for gene JAG1 were set to Alagille syndrome, Neonatal and Adult Cholestasis

16 May 2018, Gel status: 1

Added New Source

Ellen Thomas (Genomics England Curator)

JAG1 was added to Cholestasis panel. Sources: Other

16 May 2018, Gel status: 1

Created

Ellen Thomas (Genomics England Curator)

JAG1 was created by Ellen Thomas