Thoracic aortic aneurysm or dissection (GMS)
Gene: ATP6V0A2
Submitted on behalf of the GMS Cardiology specialist group. The group has agreed that this gene should be Red on this panel.Created: 18 Nov 2019, 4:33 p.m. | Last Modified: 18 Nov 2019, 4:33 p.m.
Panel Version: 0.35
No significant association with aortopathy.Created: 2 Oct 2019, 3:44 p.m. | Last Modified: 2 Oct 2019, 3:44 p.m.
Panel Version: 0.32
Not significantly associated with aortopathy.Created: 2 Oct 2019, 3:36 p.m. | Last Modified: 2 Oct 2019, 3:36 p.m.
Panel Version: 0.32
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Cutis laxa, autosomal recessive, type IIA 219200; Wrinkly skin syndrome 278250
Publications
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
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.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
#219200- Cutis laxa, autosomal recessive, type IIA; #278250- Wrinkly skin syndrome
Publications
gene: ATP6V0A2 was added gene: ATP6V0A2 was added to GMS FTAAD placeholder panel. Sources: South West GLH,Expert Review Red Mode of inheritance for gene: ATP6V0A2 was set to BIALLELIC, autosomal or pseudoautosomal