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 2.2
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
Signed-off version 1.92
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Polycystic kidney disease 613095
R-numbers: R173
Signed-off version 1.4
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Polycystic Kidney Disease 2 with or without polycystic liver disease (613095)
Component of the following Super Panels:
  • - Cystic renal disease
  • - Paediatric disorders
  • - Rare multisystem ciliopathy Super panel
Signed-off version 1.2
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Polycystic kidney disease 2, 613095
R-numbers: R257
Signed-off version 1.2
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Autosomal Dominant Polycystic Kidney Disease, Polycystic Kidney Disease, Autosomal Dominant, Polycystic kidney disease 2, 613095