Rare syndromic craniosynostosis or isolated multisuture synostosis
Gene: JAG1
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 WilkieCreated: 5 Mar 2019, 11:33 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Alagille syndrome
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 2018Created: 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: greenCreated: 5 Mar 2019, 11:21 a.m.
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 syndromeCreated: 15 Sep 2015, 6:41 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Alagille syndrome
Publications
Phenotypes for gene: JAG1 were changed from Alagille syndrome to Alagille syndrome 1, OMIM:118450
Mode of inheritance for gene: JAG1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Gene: jag1 has been classified as Green List (High Evidence).
Added phenotypes Alagille syndrome for gene: JAG1
Publications for gene: JAG1 were set to
Source NHS GMS was added to JAG1.
This gene has been classified as Red List (Low Evidence).
JAG1 was added to Craniosynostosis syndromespanel. Sources: Expert list