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Unexplained young onset end-stage renal disease v0.2 PKHD1 Eleanor Williams reviewed gene: PKHD1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Unexplained young onset end-stage renal disease v0.1 PKHD1 Eleanor Williams gene: PKHD1 was added
gene: PKHD1 was added to Unexplained paediatric onset end-stage renal disease. Sources: Expert Review Green
Mode of inheritance for gene: PKHD1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PKHD1 were set to Polycystic Kidney Disease, Autosomal Recessive; Polycystic kidney and hepatic disease, 263200; Autosomal Recessive Polycystic Kidney Disease