Thoracic aortic aneurysm or dissection
Gene: COL4A1
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.
Source South West GLH was added to COL4A1. Mode of inheritance for gene COL4A1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
This gene has been classified as Red List (Low Evidence).
This gene has been classified as Red List (Low Evidence).
Model of inheritance for gene COL4A1 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
COL4A1 was added to Familial thoracic aortic aneurysms and dissectionpanel. Sources: Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen
COL4A1 was added to Familial thoracic aortic aneurysms and dissectionpanel. Sources: Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen