Thoracic aortic aneurysm or dissection (GMS)

Gene: COL9A2

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)

Associated with connective tissue disorders but insufficient aortic involvement described in the literature for inclusion in this panel.

Created: 3 Oct 2019, 10:57 a.m. | Last Modified: 3 Oct 2019, 10:57 a.m.

Panel Version: 0.32

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
?Stickler syndrome, type V 614284; Epiphyseal dysplasia, multiple, 2 600204

Publications

• 30071989

Red List (low evidence)

614284 AR Stickler syndrome; 600204 AD multiple epiphyseal dysplasia; no mention of cardiac phenotype on OMIM and no relevant phenotype on HGMD

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

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

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)

Phenotypes
#614284- ?Stickler syndrome, type V

Publications

• PMID: 21671392