Thoracic aortic aneurysm or dissection (GMS)

Gene: COL9A1

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)

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

• 30071989

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

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.

Red List (low evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
#614134- Stickler syndrome, type IV