Thoracic aortic aneurysm or dissection (GMS)
Gene: ACVR1
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
Not enough literature associating gene with aortopathy.Created: 2 Oct 2019, 3:23 p.m. | Last Modified: 2 Oct 2019, 3:23 p.m.
Panel Version: 0.32
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Fibrodysplasia ossificans progressiva 135100
Publications
135100 Fibrodysplasia ossificans progressiva - no cardiovascular features on OMIM; no aortopathy associations on HGMDCreated: 25 Mar 2019, 4:30 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
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, 10:52 a.m.
ACVR1 belongs to the TGFb superfamily, has an important role in cardiac development (see ref) and has been associated with CHD, including AV defects. However, there is no evidence in the literature linking this gene to aneurysm formation.Created: 9 Feb 2016, 5:04 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
#135100- Fibrodysplasia ossificans progressiva
Publications
gene: ACVR1 was added gene: ACVR1 was added to GMS FTAAD placeholder panel. Sources: South West GLH,Expert Review Red Mode of inheritance for gene: ACVR1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted