Familial non syndromic congenital heart disease
Gene: JAG1

JAG1 (jagged 1)
EnsemblGeneIds (GRCh38): ENSG00000101384
EnsemblGeneIds (GRCh37): ENSG00000101384
OMIM: 601920, Gene2Phenotype
JAG1 is in 15 panels

2 reviews

Alice Gardham (Genomics England)

Comment when marking as ready: Likely to cause a small percentage of Tetralogy of Fallot. In one cohort, 2% of TOF and 4% of PS/PPS had a mutation. offered in several labs in Europe. May represent mild form of Alagille syndrome
Created: 30 Nov 2016, 4:07 p.m.

Comment when marking as ready: Not fully penetrant
Created: 28 Nov 2016, 2:20 p.m.

Comment on list classification: Mostly associated with Alagille but can also cause non syndromic TOF
Created: 28 Nov 2016, 2:20 p.m.

Created: 28 Nov 2016, 2:20 p.m.

Panel version: 0.6

Ellen McDonagh (Genomics England Curator)

This is a confirmed DD gene for Alagille syndrome.
Created: 22 Jul 2016, 9:01 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Alagille syndrome

Created: 22 Jul 2016, 9:02 a.m.

Panel version: Imported from "Congenital heart disease" panel version 0.5

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Expert Review Green
Radboud University Medical Center, Nijmegen

Phenotypes

Alagille syndrome 1, OMIM:118450
Tetralogy of Fallot, OMIM:187500
Deafness, congenital heart defects, and posterior embryotoxon, OMIM:617992

OMIM

601920

Clinvar variants

Variants in JAG1

Penetrance

Incomplete

Panels with this gene

History Filter Activity

6 Sep 2021, Gel status: 3

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: JAG1 were changed from Tetralogy of Fallot; Alagille syndrome to Alagille syndrome 1, OMIM:118450; Tetralogy of Fallot, OMIM:187500; Deafness, congenital heart defects, and posterior embryotoxon, OMIM:617992

26 Jan 2017, Gel status: 4