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Groopman et al 2019 - Genes with diagnostic variants v0.4 PKD1 Eleanor Williams reviewed gene: PKD1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Groopman et al 2019 - Genes with diagnostic variants v0.3 PKD1 Eleanor Williams Source Expert Review Green was added to PKD1.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Groopman et al 2019 - Genes with diagnostic variants v0.2 PKD1 Eleanor Williams gene: PKD1 was added
gene: PKD1 was added to Groopman et al 2019 - Genes with diagnostic variants. Sources: Literature,Expert review green
Mode of inheritance for gene: PKD1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: PKD1 were set to Congenital or cystic renal disease; Nephropathy of unknown origin; Polycystic kidney disease 1; MIM 173900