Ehlers Danlos syndrome with a likely monogenic cause
Gene: ATP6V0A2

ATP6V0A2 (ATPase H+ transporting V0 subunit a2)
EnsemblGeneIds (GRCh38): ENSG00000185344
EnsemblGeneIds (GRCh37): ENSG00000185344
OMIM: 611716, Gene2Phenotype
ATP6V0A2 is in 14 panels

6 reviews

Duncan Baker (Sheffield Genetics)

Green List (high evidence)

Created: 3 Apr 2019, 3:44 p.m.

Panel version: 1.43

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: ATP6V0A2; Suggested initial gene rating: green
Created: 3 Apr 2019, 3:41 p.m.

Created: 3 Apr 2019, 3:41 p.m.

Panel version: 1.42

Angela Brady (Nhs)

Green List (high evidence)

Created: 7 Jul 2017, 6:29 p.m.

Panel version: 0.401

Neeti Ghali (NWTRGS, Northwick Park Hospital)

Green List (high evidence)

Created: 7 Jul 2017, 6:28 p.m.

Panel version: 0.401

Louise Daugherty (Genomics England Curator)

Green List (high evidence)

Comment on publications: added publications to support evidence that variants of ATP6V062 causes cutis laxa
Created: 10 May 2017, 4:54 p.m.

Comment on list classification: Changed from Red to Green as there is enough evidence in the literature to support the phenotype
Created: 10 May 2017, 4:52 p.m.

Added to panel as can present with clinical features overlapping EDS
Created: 10 May 2017, 4:42 p.m.

Created: 10 May 2017, 4:42 p.m.

Panel version: 0.350

Ellen Thomas (Genomics England Curator)

Comment on list classification: Not an EDS gene
Created: 8 Apr 2016, 3:17 p.m.

Created: 8 Apr 2016, 3:17 p.m.

Panel version: Imported from "Ehlers-Danlos Syndrome (unusual phenotypes e.g. absent pain sense)" panel version 0.11

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

NHS GMS
Expert Review Green
Illumina TruGenome Clinical Sequencing Services
Expert list
Emory Genetics Laboratory
Radboud University Medical Center, Nijmegen

Phenotypes

Cutis laxa, autosomal recessive, type IIA, OMIM:219200
Wrinkly skin syndrome, OMIM:278250

OMIM

611716

Clinvar variants

Variants in ATP6V0A2

Penetrance

Complete

Publications

Panels with this gene

History Filter Activity

18 Mar 2021, Gel status: 3

Set Phenotypes

Ivone Leong (Genomics England Curator)

Phenotypes for gene: ATP6V0A2 were changed from Cutis laxa, autosomal recessive, type IIA, 219200; Wrinkly skin syndrome, 278250 to Cutis laxa, autosomal recessive, type IIA, OMIM:219200; Wrinkly skin syndrome, OMIM:278250

13 Mar 2019, Gel status: 3

Added New Source, Status Update

Eleanor Williams (Genomics England Curator)

Source NHS GMS was added to ATP6V0A2. Rating Changed from Green List (high evidence) to Green List (high evidence)

25 Jul 2017, Gel status: 4