Thoracic aortic aneurysm or dissection
Gene: ACVR1
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
Source South West GLH was added to ACVR1. Mode of inheritance for gene ACVR1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
ACVR1 was added to Familial thoracic aortic aneurysms and dissectionpanel. Sources: Expert list