Thoracic aortic aneurysm or dissectionGene: COL11A2
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.
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.
#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
Source South West GLH was added to COL11A2. Mode of inheritance for gene COL11A2 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
COL11A2 was added to Familial thoracic aortic aneurysms and dissectionpanel. Sources: Expert list