Rebecca Foulger Phenotypes for gene: PKD1 were changed from Polycystic kidney disease, adult type I, 173900 to Polycystic kidney disease, adult type I, 173900; Autosomal recessive polycystic kidney disease (ARPKD); Autosomal dominant polycystic kidney disease (ADPKD)
Rebecca Foulger Added comment: Comment on mode of inheritance: Updated MOI from Monoallelic to both Monoallelic and Biallelic, based on review by Julia Baptista.
Rebecca Foulger Mode of inheritance for gene: PKD1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Julia Baptista reviewed gene: PKD1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 20558538, 23624871; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal