PanelApp
  1. Genes and Genomic Entities
  2. PSKH1

PSKH1

protein serine kinase H1
OMIM: 177015, Gene2Phenotype

4 panels

Panel Reviews Mode of inheritance Details
4 panels

Green PSKH1 in Cholestasis


Level 2: Gastroenterological disorders
Version 1.5

Component of the following Super Panels:

  • Liverome Superpanel

    		•  2 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Cholestasis, progressive familial intrahepatic, 13, MIM# 620962

    Green PSKH1 in Ciliopathies


    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 1.94

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Cholestasis, progressive familial intrahepatic, 13, MIM# 620962

    Green PSKH1 in Mendeliome


    Version 1.3512

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Cholestasis, progressive familial intrahepatic, 13, MIM# 620962

    Green PSKH1 in Renal Ciliopathies and Nephronophthisis


    Level 2: Renal and urinary tract disorders
    Version 1.45

    Component of the following Super Panels:

  • Kidneyome_SuperPanel
  • Renal Cystic Disease_SuperPanel

    		•  1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Cholestasis, progressive familial intrahepatic, 13, MIM# 620962