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| Thoracic aortic aneurysm or dissection (GMS) v0.35 | PKD1 | Ivone Leong reviewed gene: PKD1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thoracic aortic aneurysm or dissection (GMS) v0.32 | PKD1 | James Eden reviewed gene: PKD1: Rating: RED; Mode of pathogenicity: None; Publications: 17656674, 18679710; Phenotypes: Polycystic kidney disease 1 173900; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thoracic aortic aneurysm or dissection (GMS) v0.0 | PKD1 |
Ellen McDonagh gene: PKD1 was added gene: PKD1 was added to GMS FTAAD placeholder panel. Sources: South West GLH,Expert Review Red Mode of inheritance for gene: PKD1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: PKD1 were set to Connective Tissue Disorders; Polycystic kidney disease, adult type I,173900 |
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