PanelApp (stage)
  1. Genes and Genomic Entities
  2. PPM1F

PPM1F

protein phosphatase, Mg2+/Mn2+ dependent 1F
Gene2Phenotype

2 panels

Panel Reviews Mode of inheritance Details
2 panels

Red PPM1F in Cholestasis


Level 2: Gastroenterological disorders
Version 0.240

Component of the following Super Panels:

  • Liverome Superpanel

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

    Red PPM1F in Mendeliome


    Version 1.1891

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