Ehlers Danlos syndromes

Gene: ATP6V1A

Green List (high evidence)

ATP6V1A (ATPase H+ transporting V1 subunit A)
EnsemblGeneIds (GRCh38): ENSG00000114573
EnsemblGeneIds (GRCh37): ENSG00000114573
OMIM: 607027, Gene2Phenotype
ATP6V1A is in 5 panels

6 reviews

Duncan Baker (Sheffield Genetics)

Green List (high evidence)

Eleanor Williams (Genomics England Curator)

I don't know

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.

Louise Daugherty (Genomics England Curator)

Green List (high evidence)

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.

Angela Brady (Nhs)

Green List (high evidence)

Neeti Ghali (NWTRGS, Northwick Park Hospital)

Green List (high evidence)

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)

Green List (high evidence)

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

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

6 Jul 2021, Gel status: 3

Set publications

Arina Puzriakova (Genomics England Curator)

Publications for gene: ATP6V1A were set to 28065471

18 Mar 2021, Gel status: 3

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

13 Mar 2019, Gel status: 3

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)

22 Sep 2017, Gel status: 4

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for ATP6V1A were set to Cutis laxa, autosomal recessive, type IID, 617403

25 Jul 2017, Gel status: 4

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.

10 Jul 2017, Gel status: 4

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for ATP6V1A were set to Cutis laxa, autosomal recessive, type IID;617403

10 Jul 2017, Gel status: 4

Gene classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

5 Jul 2017, Gel status: 0

Set publications

Louise Daugherty (Genomics England Curator)

Publications for ATP6V1A were set to 28065471

19 May 2017, Gel status: 0

Added New Source

Ellen Thomas (Genomics England Curator)

ATP6V1A was added to Ehlers-Danlos syndromespanel. Sources: Expert Review

19 May 2017, Gel status: 0

Created

Ellen Thomas (Genomics England Curator)

ATP6V1A was created by EllenThomas