Thoracic aortic aneurysm or dissection (GMS)

Gene: COL4A1

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)

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

• 20558831

Red List (low evidence)

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 disease

Created: 25 Mar 2019, 4:30 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Red List (low evidence)

Red List (low evidence)

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

• PMID: 18160688

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.