PKD1

polycystin 1, transient receptor potential channel interacting
OMIM: 601313
PanelMode of inheritanceDetails
5 panels
Component of the following Super Panels:
  • - Cystic renal disease
Signed-off version 2.2
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Phenotypes
Polycystic kidney disease, adult type I, 173900, Autosomal recessive polycystic kidney disease (ARPKD), Autosomal dominant polycystic kidney disease (ADPKD)
R-numbers: R21
Signed-off version 1.92
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Phenotypes
Polycystic kidney disease, 173900, Autosomal recessive polycystic kidney disease (ARPKD), Autosomal dominant polycystic kidney disease (ADPKD)
R-numbers: R173
Signed-off version 1.4
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Polycystic Kidney Disease 1 with or without polycystic liver disease (173900)
Component of the following Super Panels:
  • - Cystic renal disease
  • - Paediatric disorders
  • - Rare multisystem ciliopathy Super panel
Signed-off version 1.2
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Phenotypes
Polycystic kidney disease, adult type I, 173900, Autosomal recessive polycystic kidney disease (ARPKD), Autosomal dominant polycystic kidney disease (ADPKD)
R-numbers: R257
Signed-off version 1.2
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Phenotypes
Polycystic kidney disease, adult type I, 173900, Autosomal recessive polycystic kidney disease (ARPKD), Autosomal dominant polycystic kidney disease (ADPKD)