Ehlers Danlos syndrome with a likely monogenic cause
Gene: ATP6V1AEnsemblGeneIds (GRCh38): ENSG00000114573
EnsemblGeneIds (GRCh37): ENSG00000114573
OMIM: 607027, Gene2Phenotype
ATP6V1A is in 4 panels
6 reviews
Duncan Baker (Sheffield Genetics)
Eleanor Williams (Genomics England Curator)
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: greenCreated: 3 Apr 2019, 3:41 p.m.
Louise Daugherty (Genomics England Curator)
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 LaxaCreated: 10 Jul 2017, 2:05 p.m.
Angela Brady (Nhs)
Neeti Ghali (NWTRGS, Northwick Park Hospital)
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.
Ellen Thomas (Genomics England Curator)
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
Phenotypes
Cutis laxa, autosomal recessive, type IID
Publications
- PubMed: 28065471
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- NHS GMS
- Expert Review Green
- Expert Review
- Phenotypes
-
- Cutis laxa, autosomal recessive, type IID, OMIM:617403
- OMIM
- 607027
- Clinvar variants
- Variants in ATP6V1A
- Penetrance
- Complete
- Publications
- Panels with this gene
History Filter Activity
Set publications
Arina Puzriakova (Genomics England Curator)Publications for gene: ATP6V1A were set to 28065471
Set Phenotypes
Ivone Leong (Genomics England Curator)Phenotypes for gene: ATP6V1A were changed from Cutis laxa, autosomal recessive, type IID, 617403 to Cutis laxa, autosomal recessive, type IID, OMIM:617403
Added New Source, Status Update
Eleanor Williams (Genomics England Curator)Source NHS GMS was added to ATP6V1A. Rating Changed from Green List (high evidence) to Green List (high evidence)
Set Phenotypes
Louise Daugherty (Genomics England Curator)Phenotypes for ATP6V1A were set to Cutis laxa, autosomal recessive, type IID, 617403
panel promoted to version 1
Louise Daugherty (Genomics England Curator)25 July 2017 Panel reviews were assessed, and panel was revised according to reviews and further curation.
Set Phenotypes
Louise Daugherty (Genomics England Curator)Phenotypes for ATP6V1A were set to Cutis laxa, autosomal recessive, type IID;617403
Gene classified by Genomics England curator
Louise Daugherty (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set publications
Louise Daugherty (Genomics England Curator)Publications for ATP6V1A were set to 28065471
Added New Source
Ellen Thomas (Genomics England Curator)ATP6V1A was added to Ehlers-Danlos syndromespanel. Sources: Expert Review
Created
Ellen Thomas (Genomics England Curator)ATP6V1A was created by EllenThomas