Unexplained kidney failure in young people
Gene: PKD1Comment on mode of inheritance: Updating the Mode of Inheritance to include the biallelic cases (PMIDs: * 20558538, 23624871)Created: 27 Jun 2019, 10:19 a.m. | Last Modified: 27 Jun 2019, 10:19 a.m.
Panel Version: 1.66
Comment when marking as ready: Associated with phenotype in OMIM, not in G2P. Numerous variants reportedCreated: 5 Aug 2016, 8:54 a.m.
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)
Publications for gene: PKD1 were set to 19165178; 20558538; 22034641
Mode of inheritance for gene: PKD1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Promoted to version 1 17th August 2016
This gene has been classified as Green List (High Evidence).
PKD1 was added to Unexplained kidney failure in young peoplepanel. Sources: Expert list,Expert Review,Radboud University Medical Center, Nijmegen,UKGTN
PKD1All sources for gene: PKD1 were removed
PKD1 was added to Unexplained kidney failure in young peoplepanel. Sources: Emory Genetics Laboratory
PKD1 was added to Unexplained kidney failure in young peoplepanel. Sources: Illumina TruGenome Clinical Sequencing Services,UKGTN
This gene has been classified as Green List (High Evidence).
Mode of inheritance for PKD1 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
PKD1 was added to Unexplained kidney failure in young peoplepanel. Sources: UKGTN
Mode of inheritance for PKD1 was changed to BIALLELIC, autosomal or pseudoautosomal
Publications for PKD1 were set to 19165178; 20558538; 22034641
Phenotypes for gene PKD1 were set to Polycystic kidney disease, adult type I, 173900
PKD1 was added to Unexplained kidney failure in young peoplepanel. Sources: Radboud University Medical Center, Nijmegen,UKGTN,Expert,Eligibility statement prior genetic testing,Expert Review Green
PKD1 was created by sleigh