Cystic kidney disease
Gene: PKD2
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
Publications for gene: PKD2 were set to
This gene has been classified as Green List (High Evidence).
Mode of inheritance for PKD2 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
PKD2 was added to Cystic kidney diseasepanel. Sources: Eligibility statement prior genetic testing
Model of inheritance for gene PKD2 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
PKD2 was added to Cystic kidney diseasepanel. Sources: Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,UKGTN,Emory Genetics Laboratory,Expert
Model of inheritance for gene PKD2 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
PKD2 was added to Cystic kidney diseasepanel. Sources: Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,UKGTN,Emory Genetics Laboratory,Expert
Model of inheritance for gene PKD2 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
PKD2 was added to Cystic kidney diseasepanel. Sources: Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,UKGTN,Emory Genetics Laboratory,Expert
Model of inheritance for gene PKD2 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
PKD2 was added to Cystic kidney diseasepanel. Sources: Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,UKGTN,Emory Genetics Laboratory,Expert
PKD2 was added to Cystic kidney diseasepanel. Sources: Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,UKGTN,Emory Genetics Laboratory,Expert