Unexplained young onset end-stage renal disease
Gene: PKD2
Gene imported from the 'Renal and urinary tract disorders' panel v1.8 with a rating of GreenCreated: 9 Apr 2019, 11:17 a.m.
Approximately 15% of cases of ADPKD due to mutations in this gene. Majority of mutations are truncating. PKD2 mutation is associated with significantly delayed onset of ESRD relative to PKD1 truncating mutations therefore has important therapeutic and prognostic implicationsCreated: 25 Jan 2019, 4:56 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Polycystic kidney disease
Publications
Variants in this GENE are reported as part of current diagnostic practice
Comment when marking as ready: Associated with phenotype in OMIM, not in G2P. Numerous variants reportedCreated: 5 Aug 2016, 8:59 a.m.
gene: PKD2 was added gene: PKD2 was added to Unexplained paediatric onset end-stage renal disease. Sources: Expert Review Green Mode of inheritance for gene: PKD2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: PKD2 were set to 23431072; 21719175; 22114106; 28356211; 18635443 Phenotypes for gene: PKD2 were set to Autosomal Dominant Polycystic Kidney Disease; Polycystic Kidney Disease, Autosomal Dominant; Polycystic kidney disease 2, 613095