Thoracic aortic aneurysm or dissection

Gene: ATP6V0A2

Red List (low evidence)

ATP6V0A2 (ATPase H+ transporting V0 subunit a2)
EnsemblGeneIds (GRCh38): ENSG00000185344
EnsemblGeneIds (GRCh37): ENSG00000185344
OMIM: 611716, Gene2Phenotype
ATP6V0A2 is in 16 panels

3 reviews

Rebecca Whittington (South West GLH)

Red List (low evidence)

219200 Cutis laxa; 278250 wrinkly skin syndrome; no cardiac phenotype but some overlapping skin/joint laxity features with MFS/EDS type syndromes. Over 40 variants associated with cutis laxa on HGMD.
Created: 25 Mar 2019, 4:30 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Ellen McDonagh (Genomics England Curator)

Not on the Inherited Cardiac Condition Genes panel for Familial aortic anuerysm reported in: Development of a Comprehensive Sequencing Assay for Inherited Cardiac Condition Genes, Pua et al, Journal of Cardiovascular Translational Research, online Feb 2016 (doi:10.​1007/​s12265-016-9673-5). The panel contains disease-causing, putatively pathogenic, research and phenocopy genes.
Created: 19 Feb 2016, 10:53 a.m.

Matina Prapa (Genomics England Curator)

Red List (low evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

#219200- Cutis laxa, autosomal recessive, type IIA; #278250- Wrinkly skin syndrome


History Filter Activity

21 Feb 2019, Gel status: 1

Added New Source, Set mode of inheritance

Ellen McDonagh (Genomics England Curator)

Source South West GLH was added to ATP6V0A2. Mode of inheritance for gene ATP6V0A2 was changed from to BIALLELIC, autosomal or pseudoautosomal

3 Jul 2015, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

ATP6V0A2 was added to Familial thoracic aortic aneurysms and dissectionpanel. Sources: Expert list