Ehlers Danlos syndromesGene: ATP6V1A
This gene was part of an initial gene list collated by Duncan Baker, Sheffield Diagnostic Genetics Service, January 2019 on behalf of the GMS Musculoskeletal Specialist Group; Gene symbol submitted: ATP6V1A; Suggested initial gene rating: green
Created: 3 Apr 2019, 3:41 p.m.
Comment on list classification: changed from Red to Green due to expert review denoting a recent paper that found Mutations in ATP6V1E1 or ATP6V1A caused Autosomal-Recessive Cutis Laxa
Created: 10 Jul 2017, 2:05 p.m.
Am J Hum Genet. 2017 Feb 2;100(2):216-227. doi: 10.1016/j.ajhg.2016.12.010. Epub 2017 Jan 5. PMID: 28065471 Mutations in ATP6V1E1 or ATP6V1A Cause Autosomal-Recessive Cutis Laxa. Review from EDS National Diagnostic Service North West London Hospital NHS Trust: Dr Angela Brady FRCP PhD, Consultant Clinical Geneticist; Dr Neeti Ghali MBChB MD, Consultant Clinical Geneticist; Dr Fleur S van Dijk MD PhD, Consultant.
Created: 7 Jul 2017, 6:29 p.m.
3 separate families, though only in one paper so far.
Created: 19 May 2017, 1:50 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Cutis laxa, autosomal recessive, type IID
Publications for gene: ATP6V1A were set to 28065471
Phenotypes for gene: ATP6V1A were changed from Cutis laxa, autosomal recessive, type IID, 617403 to Cutis laxa, autosomal recessive, type IID, OMIM:617403
Source NHS GMS was added to ATP6V1A. Rating Changed from Green List (high evidence) to Green List (high evidence)
Phenotypes for ATP6V1A were set to Cutis laxa, autosomal recessive, type IID, 617403
25 July 2017 Panel reviews were assessed, and panel was revised according to reviews and further curation.
Phenotypes for ATP6V1A were set to Cutis laxa, autosomal recessive, type IID;617403
This gene has been classified as Green List (High Evidence).
Publications for ATP6V1A were set to 28065471
ATP6V1A was added to Ehlers-Danlos syndromespanel. Sources: Expert Review
ATP6V1A was created by EllenThomas