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| Cerebral vascular malformations v0.39 | PKD2 | Sangavi Sivagnanasundram reviewed gene: PKD2: Rating: AMBER; Mode of pathogenicity: None; Publications: 20301424; Phenotypes: polycystic kidney disease 2 MONDO:0013131; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral vascular malformations v0.0 | PKD2 |
Zornitza Stark gene: PKD2 was added gene: PKD2 was added to Cerebral vascular malformations. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: PKD2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: PKD2 were set to Polycystic kidney disease 2 613095 |
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