Genomics England
GMS Panels
Panels
Genes and Entities

PKD2

polycystin 2, transient receptor potential cation channel
OMIM: 173910
PanelMode of inheritanceDetails
5 panels
Green
in Cystic kidney disease
Component of the following Super Panels:
  • - Cystic renal disease
  • - Unexplained young onset end-stage renal disease
Signed-off version 9.0
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Polycystic Kidney Disease, Autosomal Dominant, Polycystic kidney disease 2, 613095, Autosomal Dominant Polycystic Kidney Disease
Green
in Fetal anomalies
R-numbers: R21, R412
Signed-off version 7.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Polycystic kidney disease 613095
Green
in Paediatric or syndromic cardiomyopathy
Component of the following Super Panels:
  • - Unexplained death in infancy and sudden unexplained death in childhood
R-numbers: R135
Signed-off version 8.0
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Polycystic kidney disease 2, OMIM:613095, polycystic kidney disease 2, MONDO:0013131, dilated cardiomyopathy, MONDO:0005021
Green
in Polycystic liver disease
R-numbers: R173
Signed-off version 1.26
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Polycystic kidney disease 2, OMIM:613095, liver cysts
Green
in Renal ciliopathies
Component of the following Super Panels:
  • - Cystic renal disease
  • - Paediatric disorders
  • - Rare multisystem ciliopathy Super panel
  • - Unexplained young onset end-stage renal disease
Signed-off version 5.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Polycystic kidney disease 2, 613095