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Rare multisystem ciliopathy disorders v1.111 PKD1 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)
Rare multisystem ciliopathy disorders v1.110 PKD1 Rebecca Foulger Added comment: Comment on mode of inheritance: Updated MOI from Monoallelic to both Monoallelic and Biallelic, based on review by Julia Baptista.
Rare multisystem ciliopathy disorders v1.110 PKD1 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
Rare multisystem ciliopathy disorders v1.109 PKD1 Rebecca Foulger Publications for gene: PKD1 were set to
Rare multisystem ciliopathy disorders v1.84 PKD1 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
Rare multisystem ciliopathy disorders PKD1 Richard Scott marked PKD1 as ready
Rare multisystem ciliopathy disorders PKD1 Richard Scott classified PKD1 as green
Rare multisystem ciliopathy disorders PKD1 Richard Scott reviewed PKD1