1. Panels
  2. Cystic kidney disease
  3. PKD2
STRs in panel
Prev Next

Cystic kidney disease

Gene: PKD2

Green List (high evidence)
PKD2 (polycystin 2, transient receptor potential cation channel)
EnsemblGeneIds (GRCh38): ENSG00000118762
EnsemblGeneIds (GRCh37): ENSG00000118762
OMIM: 173910, Gene2Phenotype
PKD2 is in 16 panels

1 review

Miranda Durkie (Genetics)

Green List (high evidence)

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 implications
Created: 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

Created: 5 Nov 2017, 2:39 a.m.

Panel version: 1.33

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Eligibility statement prior genetic testing
  • Expert
  • Emory Genetics Laboratory
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Polycystic Kidney Disease, Autosomal Dominant
  • Polycystic kidney disease 2, 613095
  • Autosomal Dominant Polycystic Kidney Disease
OMIM
173910
Clinvar variants
Variants in PKD2
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

30 Jan 2019, Gel status: 3

Set publications

Eleanor Williams (Genomics England Curator)

Publications for gene: PKD2 were set to

15 Apr 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen Thomas (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

15 Apr 2016, Gel status: 4

Set Mode of Inheritance

Ellen Thomas (Genomics England Curator)

Mode of inheritance for PKD2 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

12 Aug 2015, Gel status: 4

Added New Source

Ellen McDonagh (Genomics England Curator)

PKD2 was added to Cystic kidney diseasepanel. Sources: Eligibility statement prior genetic testing

15 Jul 2015, Gel status: 4

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene PKD2 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

15 Jul 2015, Gel status: 4

Added New Source

Ellen McDonagh (Genomics England Curator)

PKD2 was added to Cystic kidney diseasepanel. Sources: Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,UKGTN,Emory Genetics Laboratory,Expert

15 Jul 2015, Gel status: 4

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene PKD2 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

15 Jul 2015, Gel status: 4

Added New Source

Ellen McDonagh (Genomics England Curator)

PKD2 was added to Cystic kidney diseasepanel. Sources: Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,UKGTN,Emory Genetics Laboratory,Expert

15 Jul 2015, Gel status: 3

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene PKD2 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

15 Jul 2015, Gel status: 3

Added New Source

Ellen McDonagh (Genomics England Curator)

PKD2 was added to Cystic kidney diseasepanel. Sources: Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,UKGTN,Emory Genetics Laboratory,Expert

15 Jul 2015, Gel status: 2

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene PKD2 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

15 Jul 2015, Gel status: 2

Added New Source

Ellen McDonagh (Genomics England Curator)

PKD2 was added to Cystic kidney diseasepanel. Sources: Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,UKGTN,Emory Genetics Laboratory,Expert

15 Jul 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

PKD2 was added to Cystic kidney diseasepanel. Sources: Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,UKGTN,Emory Genetics Laboratory,Expert