Genomics England
GMS Panels
Panels
Genes and Entities

PKHD1

PKHD1, fibrocystin/polyductin
OMIM: 606702
PanelMode of inheritanceDetails
6 panels
Green
in Cholestasis
R-numbers: R171
Signed-off version 4.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Polycystic kidney disease 4, with or without hepatic disease, OMIM:263200
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
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Polycystic kidney disease 4 with or without hepatic disease, OMIM:263200
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 7.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
POLYCYSTIC KIDNEY DISEASE, AUTOSOMAL RECESSIVE 263200
Green
in Fetal anomalies
R-numbers: R21, R412
Signed-off version 7.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Polycystic kidney disease 4 with or without hepatic disease, OMIM:263200
Green
in Polycystic liver disease
R-numbers: R173
Signed-off version 1.26
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Polycystic kidney disease 4 with or without hepatic disease, OMIM:263200, Caroli disease, MONDO:0010913
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
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Polycystic kidney disease 4 with or without hepatic disease, OMIM:263200