PanelApp (test)
  1. Genes and Genomic Entities
  2. PPM1F:Ensemblv90

PPM1F:Ensemblv90

protein phosphatase, Mg2+/Mn2+ dependent 1F
ClinGen, DECIPHER

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Red PPM1F in Cholestasis


Level 2: Gastroenterological disorders
Version 1.5

Component of the following Super Panels:

  • Liverome Superpanel

    		•  1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Literature
    Phenotypes
    • sclerosing cholangitis
    • short stature
    • hypothyroidism
    • abnormal tongue pigmentatio

    Red PPM1F in Mendeliome


    Version 1.3802

    		2 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Literature
    Phenotypes
    • sclerosing cholangitis
    • short stature
    • hypothyroidism
    • abnormal tongue pigmentation

    Red PPM1F in Cholestasis


    Level 2: Gastroenterological disorders
    Version 2.0

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Literature
    • Expert Review Red
    Phenotypes
    • sclerosing cholangitis
    • short stature
    • hypothyroidism
    • abnormal tongue pigmentatio