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Groopman et al 2019 - Genes with diagnostic variants v0.4 | PKHD1 | Eleanor Williams reviewed gene: PKHD1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Groopman et al 2019 - Genes with diagnostic variants v0.3 | PKHD1 |
Eleanor Williams Source Expert Review Green was added to PKHD1. 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 | PKHD1 |
Eleanor Williams gene: PKHD1 was added gene: PKHD1 was added to Groopman et al 2019 - Genes with diagnostic variants. Sources: Literature,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; Congenital or cystic renal disease; Nephropathy of unknown origin; MIM 263200 |