PKD2

polycystin 2, transient receptor potential cation channel
OMIM: 173910
PanelMode of inheritanceDetails
5 panels
Component of the following Super Panels:
  • - Cystic renal disease
Signed-off version 4.19
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Polycystic Kidney Disease, Autosomal Dominant, Polycystic kidney disease 2, 613095, Autosomal Dominant Polycystic Kidney Disease
R-numbers: R21, R412
Signed-off version 3.122
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Polycystic kidney disease 613095
R-numbers: R173
Signed-off version 1.26
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Polycystic kidney disease 2, OMIM:613095, liver cysts
Component of the following Super Panels:
  • - Cystic renal disease
  • - Paediatric disorders
  • - Rare multisystem ciliopathy Super panel
Signed-off version 3.3
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Polycystic kidney disease 2, 613095
R-numbers: R257
Signed-off version 3.11
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Autosomal Dominant Polycystic Kidney Disease, Polycystic Kidney Disease, Autosomal Dominant, Polycystic kidney disease 2, 613095