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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) |
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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 |