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Thoracic aortic aneurysm or dissection v1.90 | COL9A2 | Rebecca Whittington commented on gene: COL9A2: 614284 AR Stickler syndrome; 600204 AD multiple epiphyseal dysplasia; no mention of cardiac phenotype on OMIM and no relevant phenotype on HGMD | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Thoracic aortic aneurysm or dissection v1.88 | COL9A2 | Rebecca Whittington reviewed gene: COL9A2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Thoracic aortic aneurysm or dissection v1.87 | COL9A2 |
Ellen McDonagh Source South West GLH was added to COL9A2. Mode of inheritance for gene COL9A2 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal |