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  2. Cholestasis
  3. PPM1F
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Cholestasis

Gene: PPM1F

Red List (low evidence)
PPM1F (protein phosphatase, Mg2+/Mn2+ dependent 1F)
EnsemblGeneIds (GRCh38): ENSG00000100034
EnsemblGeneIds (GRCh37): ENSG00000100034
PPM1F is in 2 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

One consanguineous family reported.
Sources: Literature
Created: 22 Apr 2020, 10:35 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
sclerosing cholangitis; short stature; hypothyroidism; abnormal tongue pigmentation

Publications

Created: 22 Apr 2020, 10:35 p.m.

Panel version: 0.18

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • sclerosing cholangitis
  • short stature
  • hypothyroidism
  • abnormal tongue pigmentatio
Clinvar variants
Variants in PPM1F
Penetrance
None
Publications
Panels with this gene

History Filter Activity

22 Apr 2020, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: ppm1f has been classified as Red List (Low Evidence).

22 Apr 2020, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: PPM1F was added gene: PPM1F was added to Cholestasis. Sources: Literature Mode of inheritance for gene: PPM1F was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PPM1F were set to 30250217 Phenotypes for gene: PPM1F were set to sclerosing cholangitis; short stature; hypothyroidism; abnormal tongue pigmentatio Review for gene: PPM1F was set to RED