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Thoracic aortic aneurysm or dissection v1.90 COL9A1 Rebecca Whittington commented on gene: COL9A1: 614135 Multiple epiphyseal dysplasia; 614134 Stickler syndrome, type IV; no mention of cardiac involvement on OMIM and no relevant phenotypes on HGMD
Thoracic aortic aneurysm or dissection v1.88 COL9A1 Rebecca Whittington reviewed gene: COL9A1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Thoracic aortic aneurysm or dissection v1.87 COL9A1 Ellen McDonagh Source South West GLH was added to COL9A1.
Mode of inheritance for gene COL9A1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted