Genomics England
GMS Panels
Panels
Genes and Entities

PSKH1

protein serine kinase H1
OMIM: 177015
PanelMode of inheritanceDetails
1 panel
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 3.18
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
hepatorenal syndrome, MONDO:0001382