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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 |