PPM1F

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

1 panel

Panel Reviews Mode of inheritance Details
1 panel
Red PPM1F in Cholestasis


Version 3.4
Latest signed off version: v3.0 (22 Mar 2023)

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