Research panel - Severe Paediatric Disorders
Gene: JAG1

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

1 review

Louise Daugherty (Genomics England Curator)

I don't know

Initial gene list (NGC_genelist-20190823_GREEN_dis_moi_forCuration_20200211.xlsx) collated by Dr Courtney French (University of Cambridge University Hospital NHS Foundation), Dr Karyn Megy (Clinical Feedback Lead, NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation), Dr Alba Sanchis-Juan (NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation) and Lucy Raymond (Professor of Medical Genetics and Neurodevelopment, University of Cambridge University Hospital NHS Foundation). Submitted to the PanelApp resource January 2020 on behalf of the Next Generation Children Project, Addenbrookes' Hospital, Cambridge. Gene Symbol submitted: JAG1; Recommended initial gene rating: Green List (high evidence); Phenotypes: Alagille syndrome 1, 118450 (3) | ?Deafness, congenital heart defects, and posterior embryotoxon, 617992 (3) | Tetralogy of Fallot, 187500 (3); Mode of inheritance: Autosomal dominant | ND | Autosomal dominant
Created: 20 Feb 2020, 5:21 p.m. | Last Modified: 20 Feb 2020, 5:21 p.m.

Panel Version: 0.12

Created: 20 Feb 2020, 5:21 p.m.
Last Modified: 20 Feb 2020, 5:21 p.m.
Panel version: 0.12

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Next Generation Children Project
Expert Review Green
Expert list

Phenotypes

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

OMIM

601920

Clinvar variants

Variants in JAG1

Penetrance

None

Publications

30847515

Panels with this gene

History Filter Activity

6 Sep 2021, Gel status: 3

Set mode of inheritance

Arina Puzriakova (Genomics England Curator)

Mode of inheritance for gene: JAG1 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

21 Feb 2020, Gel status: 3