Ehlers Danlos syndromesGene: ATP6V0A2
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.
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.
Comment on list classification: Not an EDS gene
Created: 8 Apr 2016, 3:17 p.m.
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
Source NHS GMS was added to ATP6V0A2. Rating Changed from Green List (high evidence) to Green List (high evidence)
25 July 2017 Panel reviews were assessed, and panel was revised according to reviews and further curation.
This gene has been classified as Green List (High Evidence).
Publications for ATP6V0A2 were set to 18157129; 15657616; 22773132;20301755
Publications for ATP6V0A2 were set to 18157129;15657616;22773132
ATP6V0A2 was added to Ehlers-Danlos syndromespanel. Sources: Illumina TruGenome Clinical Sequencing Services
Phenotypes for ATP6V0A2 were set to Cutis laxa, autosomal recessive, type IIA, 219200; Wrinkly skin syndrome, 278250
Mode of inheritance for ATP6V0A2 was changed to BIALLELIC, autosomal or pseudoautosomal
ATP6V0A2 was added to Ehlers-Danlos syndromespanel. Sources: Expert list,Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory,Expert Review Red
ATP6V0A2 was created by ellenmcdonagh