Thoracic aortic aneurysm or dissection
Gene: ATP6V0A2
ATP6V0A2 (ATPase H+ transporting V0 subunit a2)
EnsemblGeneIds (GRCh38): ENSG00000185344
EnsemblGeneIds (GRCh37): ENSG00000185344
OMIM: 611716, Gene2Phenotype
ATP6V0A2 is in 14 panels
EnsemblGeneIds (GRCh38): ENSG00000185344
EnsemblGeneIds (GRCh37): ENSG00000185344
OMIM: 611716, Gene2Phenotype
ATP6V0A2 is in 14 panels
3 reviews
Rebecca Whittington (South West GLH)
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)
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
#219200- Cutis laxa, autosomal recessive, type IIA; #278250- Wrinkly skin syndrome
Publications
- PMID: 23963297
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- South West GLH
- Expert list
- OMIM
- 611716
- Clinvar variants
- Variants in ATP6V0A2
- Penetrance
- Complete
- Panels with this gene
-
- Thoracic aortic aneurysm or dissection
- Intellectual disability
- Ehlers Danlos syndrome with a likely monogenic cause
- Fetal anomalies
- Undiagnosed metabolic disorders
- Skeletal dysplasia
- Osteogenesis imperfecta
- Pneumothorax - familial
- Congenital disorders of glycosylation
- Childhood onset dystonia, chorea or related movement disorder
- Likely inborn error of metabolism
- Rare genetic inflammatory skin disorders
- Thoracic aortic aneurysm or dissection (GMS)
- Early onset or syndromic epilepsy
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