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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