Thoracic aortic aneurysm or dissection (GMS)

Gene: COL11A2

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, 10:44 a.m. | Last Modified: 3 Oct 2019, 10:44 a.m.

Panel Version: 0.32

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Deafness, autosomal dominant 13 601868; Deafness, autosomal recessive 53 609706; Fibrochondrogenesis 2 614524; Otospondylomegaepiphyseal dysplasia, autosomal dominant 184840; Otospondylomegaepiphyseal dysplasia, autosomal recessive 215150

Red List (low evidence)

601868/609706 AD/AR Deafness; 614524 AD/AR Fibrochondrogenesis 2; 184840/215150 AD/AR Otospondylomegaepiphyseal dysplasia; no cardiac involvement on OMIM and no relevant phenotypes 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, 10:54 a.m.

Red List (low evidence)

Association of COL11A2 polymorphism with susceptibility to Kawasaki disease and development of coronary artery lesions (see ref above). No known link to TAAD.

Created: 14 Feb 2016, 11:20 a.m.

Phenotypes
#601868- Deafness, autosomal dominant 13; #609706- Deafness, autosomal recessive 53; #614524- Fibrochondrogenesis 2; # 215150- Otospondylomegaepiphyseal dysplasia; #184840- Stickler syndrome, type III; #277610- Weissenbacher-Zweymuller syndrome

Publications

• PMID: 20618517