Thoracic aortic aneurysm or dissection (GMS)

Gene: ACVR1

Red List (low evidence)

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

Red List (low evidence)

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

• 22536403

Red List (low evidence)

135100 Fibrodysplasia ossificans progressiva - no cardiovascular features on OMIM; no aortopathy associations on HGMD

Created: 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.

Red List (low evidence)

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

• PMID: 24680892
• 19506109