Thoracic aortic aneurysm or dissection (GMS)
Gene: COL4A1
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
Literature mostly associates this gene with brain vessel disease rather than aortopathy.Created: 3 Oct 2019, 10:52 a.m. | Last Modified: 3 Oct 2019, 10:52 a.m.
Panel Version: 0.32
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
?Retinal arteries, tortuosity of 180000; Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps 611773; Brain small vessel disease with or without ocular anomalies 175780; Microangiopathy and leukoencephalopathy, pontine, autosomal dominant 618564
Publications
611773 Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps - aneurysms are of carotid and cerebral arteries; 180000 tortuosity of retinal arteries; HGMD also checked; phenotype is small vessel brain/retinal diseaseCreated: 25 Mar 2019, 4:30 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Link to cerebrovascular disease (intracranial aortic aneurysms)Created: 12 Feb 2016, 11:27 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
#611773- Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps
Publications
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, 10:55 a.m.
Comment when marking as ready: Not associated with aneurysms related to this panel.Created: 29 Jan 2016, 4:16 p.m.
Comment on list classification: Reviewer rated red, and no real evidence for an association with a thoracic aortic aneurysm phenotype.Created: 29 Jan 2016, 4:15 p.m.
gene: COL4A1 was added gene: COL4A1 was added to GMS FTAAD placeholder panel. Sources: South West GLH,Expert Review Red Mode of inheritance for gene: COL4A1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: COL4A1 were set to Angiopathy, hereditary, with nephropathy, aneurysms, and muscle, 611773; Hereditary Angiopathy with Nephropathy, Aneurysms, and Muscle Cramps