Renal and urinary tract disorders
Gene: PKD2Comment on publications: Added publications suggested by Miranda Durkie on 25th January 2019 on the Cystic kidney disease panel (v.1.34)Created: 30 Jan 2019, 1:23 p.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.
Sarah Leigh: Comment when marking as ready:
Publications for gene: PKD2 were set to 18635443; 21719175; 22114106
Added phenotypes Autosomal Dominant Polycystic Kidney Disease; Polycystic kidney disease 2, 613095; Polycystic Kidney Disease, Autosomal Dominant for gene: PKD2
gene: PKD2 was added gene: PKD2 was added to Renal and urinary tract disorders. 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 18635443; 21719175; 22114106 Phenotypes for gene: PKD2 were set to Polycystic kidney disease 2, 613095