PKHD1

PKHD1, fibrocystin/polyductin
OMIM: 606702
PanelMode of inheritanceDetails
6 panels
Component of the following Super Panels:
  • - Cystic renal disease
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Autosomal Recessive Polycystic Kidney Disease, Polycystic Kidney Disease, Autosomal Recessive, Polycystic kidney and hepatic disease, 263200
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
POLYCYSTIC KIDNEY DISEASE, AUTOSOMAL RECESSIVE 263200
R-numbers: R21
Signed-off version 1.92
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
POLYCYSTIC KIDNEY DISEASE, AUTOSOMAL RECESSIVE
R-numbers: R173
Signed-off version 1.4
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Polycystic kidney disease 4 with or without hepatic disease (263200)
Component of the following Super Panels:
  • - Cystic renal disease
  • - Paediatric disorders
  • - Rare multisystem ciliopathy Super panel
Signed-off version 1.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Polycystic kidney and hepatic disease, 263200
R-numbers: R257
Signed-off version 1.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Polycystic Kidney Disease, Autosomal Recessive, Polycystic kidney and hepatic disease, 263200, Autosomal Recessive Polycystic Kidney Disease