Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
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 |