Craniosynostosis

Gene: JAG1

Green List (high evidence)

JAG1 (jagged 1)
EnsemblGeneIds (GRCh38): ENSG00000101384
EnsemblGeneIds (GRCh37): ENSG00000101384
OMIM: 601920, Gene2Phenotype
JAG1 is in 12 panels

3 reviews

Tracy Lester (Genetics laboratory, Oxford UK)

Green List (high evidence)

CSS is very rare complication - Kamath et al 2002 report 2 unrelated cases with unilateral coronal CSS. Mouse models support a role for JAG1 in cranial suture development. Very rare in relation to prevalence of Alagille, but likely meets criteria for green. Recent paper Narro-Donate Wold Neurosurg states it is the 4th case of JAG1 + CSS ; Review on behalf of Tracy Lester/Andrew Wilkie
Created: 5 Mar 2019, 11:33 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Alagille syndrome

Eleanor Williams (Genomics England Curator)

I don't know

Comment on list classification: Upgrading from red to green. Green rating agreed at the GMS musculoskeletal specialist test group Webex on 2019-05-13.
Created: 21 May 2019, 10:41 a.m.
Comment on publications: Adding PMID: 29530693 - Narro-Donate et al 2018
Created: 2 May 2019, 4:30 p.m.
This gene was part of an initial gene list collated by Tracy Lester, Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust, February 2019 on behalf of the GMS Musculoskeletal Specialist Group; Gene symbol submitted: JAG1; Suggested initial gene rating: green
Created: 5 Mar 2019, 11:21 a.m.

Andrew Wilkie (University of Oxford)

Red List (low evidence)

Mouse models support a role for JAG1 in cranial suture development. Association is likely real, but craniosynostosis is a very rare complication in Alagille syndrome. Diagnosis should only be made if mutation type and other clinical features support a diagnosis of Alagille syndrome
Created: 15 Sep 2015, 6:41 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Alagille syndrome

Publications

History Filter Activity

11 Jun 2019, Gel status: 3

Set mode of inheritance

Eleanor Williams (Genomics England Curator)

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

21 May 2019, Gel status: 3

Entity classified by Genomics England curator

Eleanor Williams (Genomics England Curator)

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

11 May 2019, Gel status: 1

Set Phenotypes

Eleanor Williams (Genomics England Curator)

Added phenotypes Alagille syndrome for gene: JAG1

2 May 2019, Gel status: 1

Set publications

Eleanor Williams (Genomics England Curator)

Publications for gene: JAG1 were set to

5 Mar 2019, Gel status: 1

Added New Source

Eleanor Williams (Genomics England Curator)

Source NHS GMS was added to JAG1.

1 Feb 2016, Gel status: 1

Gene classified by Genomics England curator

Richard Scott (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

27 Jul 2015, Gel status: 0

Added New Source

Eik Haraldsdottir (Genomics England)

JAG1 was added to Craniosynostosis syndromespanel. Sources: Expert list