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| Thoracic aortic aneurysm or dissection (GMS) v0.35 | COL9A2 | Ivone Leong reviewed gene: COL9A2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thoracic aortic aneurysm or dissection (GMS) v0.32 | COL9A2 | James Eden reviewed gene: COL9A2: Rating: RED; Mode of pathogenicity: None; Publications: 30071989; Phenotypes: ?Stickler syndrome, type V 614284, Epiphyseal dysplasia, multiple, 2 600204; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thoracic aortic aneurysm or dissection (GMS) v0.0 | COL9A2 |
Ellen McDonagh gene: COL9A2 was added gene: COL9A2 was added to GMS FTAAD placeholder panel. Sources: South West GLH,Expert Review Red Mode of inheritance for gene: COL9A2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal |
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