Thoracic aortic aneurysm and dissection

Gene: COL9A1

Red List (low evidence)

COL9A1 (collagen type IX alpha 1 chain)
EnsemblGeneIds (GRCh38): ENSG00000112280
EnsemblGeneIds (GRCh37): ENSG00000112280
OMIM: 120210, Gene2Phenotype
COL9A1 is in 17 panels

5 reviews

Ivone Leong (Genomics England Curator)

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

James Eden (Manchester)

Red List (low evidence)

Some association with connective tissue disorders but insufficient aortic involvement described in the literature for inclusion in this panel.
Created: 3 Oct 2019, 10:55 a.m. | Last Modified: 3 Oct 2019, 10:55 a.m.
Panel Version: 0.32

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
?Epiphyseal dysplasia, multiple, 6 614135; Stickler syndrome, type IV 614134

Publications

Rebecca Whittington (South West GLH)

Red List (low evidence)

614135 Multiple epiphyseal dysplasia; 614134 Stickler syndrome, type IV; no mention of cardiac involvement on OMIM and no relevant phenotypes on HGMD
Created: 25 Mar 2019, 4:30 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

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.

Matina Prapa (Genomics England Curator)

Red List (low evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
#614134- Stickler syndrome, type IV

History Filter Activity

18 Apr 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance

Ellen McDonagh (Genomics England Curator)

gene: COL9A1 was added gene: COL9A1 was added to GMS FTAAD placeholder panel. Sources: South West GLH,Expert Review Red Mode of inheritance for gene: COL9A1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted