Thoracic aortic aneurysm or dissection

Gene: COL4A1

Red List (low evidence)

COL4A1 (collagen type IV alpha 1 chain)
EnsemblGeneIds (GRCh38): ENSG00000187498
EnsemblGeneIds (GRCh37): ENSG00000187498
OMIM: 120130, Gene2Phenotype
COL4A1 is in 27 panels

4 reviews

Rebecca Whittington (South West GLH)

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

David Parry (University of Edinburgh)

Red List (low evidence)

Matina Prapa (Genomics England Curator)

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

Ellen McDonagh (Genomics England Curator)

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.

History Filter Activity

21 Feb 2019, Gel status: 1

Added New Source, Set mode of inheritance

Ellen McDonagh (Genomics England Curator)

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

29 Jan 2016, Gel status: 1

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

29 Jan 2016, Gel status: 1

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

3 Jul 2015, Gel status: 2

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene COL4A1 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

3 Jul 2015, Gel status: 2

Added New Source

Ellen McDonagh (Genomics England Curator)

COL4A1 was added to Familial thoracic aortic aneurysms and dissectionpanel. Sources: Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen

3 Jul 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

COL4A1 was added to Familial thoracic aortic aneurysms and dissectionpanel. Sources: Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen