Thoracic aortic aneurysm or dissection (GMS)
Gene: COL11A2
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
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
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 HGMDCreated: 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.
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
Publications for gene: COL11A2 were set to
gene: COL11A2 was added gene: COL11A2 was added to GMS FTAAD placeholder panel. Sources: South West GLH,Expert Review Red Mode of inheritance for gene: COL11A2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal