PPM1F

protein phosphatase, Mg2+/Mn2+ dependent 1F
OMIM: 619309, ClinGen, DECIPHER

2 panels

Panel Reviews Mode of inheritance Details
2 panels

Red PPM1F in Cholestasis


Level 2: Gastroenterological disorders
Version 2.0

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 2.0

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