Cystic kidney disease
Gene: PKD1
Mode of inheritance
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Phenotypes
Polycystic kidney disease
Publications
Variants in this GENE are reported as part of current diagnostic practice
PMID: 28378423 - single-molecule long-read sequencing approach reported to tackle the pseudo-gene issue.Created: 14 Aug 2017, 2:57 p.m.
Phenotypes
autosomal-dominant polycystic kidney disease
Publications
Comment on list classification: The primary dominant PKD gene; results need careful curation due to presence of a pseudogene which complicates read mapping and variant calling.Created: 15 Apr 2016, 11:01 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 PKD1 was changed to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
This gene has been classified as Green List (High Evidence).
Publications for PKD1 were set to 19165178; 20558538; 22034641
This gene has been classified as Green List (High Evidence).
PKD1 was added to Cystic kidney diseasepanel. Sources: Eligibility statement prior genetic testing
PKD1 was added to Cystic kidney diseasepanel. Sources: Radboud University Medical Center, Nijmegen,UKGTN,Expert
PKD1 was added to Cystic kidney diseasepanel. Sources: Radboud University Medical Center, Nijmegen,UKGTN,Expert
PKD1 was added to Cystic kidney diseasepanel. Sources: Radboud University Medical Center, Nijmegen,UKGTN,Expert