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Thoracic aortic aneurysm or dissection v1.90 COL11A2 Rebecca Whittington commented on gene: 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
Thoracic aortic aneurysm or dissection v1.88 COL11A2 Rebecca Whittington reviewed gene: COL11A2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Thoracic aortic aneurysm or dissection v1.87 COL11A2 Ellen McDonagh 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