PSKH1

protein serine kinase H1
OMIM: 177015, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels
Green PSKH1 in Cholestasis


Level 2: Gastrohepatology
Version 3.19
Latest signed off version: v3.0 (22 Mar 2023)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • Literature
Phenotypes
  • Cholestasis, progressive familial intrahepatic, 13, OMIM:620962
Green PSKH1 in Fetal anomalies


Level 2: Fetal (including NIPD)
Version 6.186
Latest signed off version: v6.0 (30 Apr 2025)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Cholestasis, progressive familial intrahepatic, 13, OMIM:620962
Green PSKH1 in Renal ciliopathies


Level 2: Renal
Version 4.19
Latest signed off version: v4.0 (30 Apr 2025)

Component of the following Super Panels:

  • Cystic renal disease
  • Paediatric disorders
  • Rare multisystem ciliopathy Super panel
  • Unexplained young onset end-stage renal disease
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • NHS GMS
    • Literature
    Phenotypes
    • Cholestasis, progressive familial intrahepatic, 13, OMIM:620962