Unexplained young onset end-stage renal disease
Gene: PKD1
Gene imported from the 'Renal and urinary tract disorders' panel v1.8 with a rating of GreenCreated: 9 Apr 2019, 11:17 a.m.
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 when marking as ready: Associated with phenotype in OMIM, not in G2P. Numerous variants reportedCreated: 5 Aug 2016, 8:54 a.m.
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; 22034641; 20558538
gene: PKD1 was added gene: PKD1 was added to Unexplained paediatric onset end-stage renal disease. Sources: Expert Review Green Mode of inheritance for gene: PKD1 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Publications for gene: PKD1 were set to 19165178; 22034641; 20558538 Phenotypes for gene: PKD1 were set to Polycystic kidney disease, adult type I, 173900