Cholestasis
Gene: PPM1F

PPM1F (protein phosphatase, Mg2+/Mn2+ dependent 1F)
EnsemblGeneIds (GRCh38): ENSG00000100034
EnsemblGeneIds (GRCh37): ENSG00000100034
PPM1F is in 1 panel

2 reviews

Ivone Leong (Genomics England Curator)

Comment on list classification: New gene added by Zornitza Stark. As there is currently only 1 case, this gene has been given a Red rating.
Created: 6 Oct 2020, 2:49 p.m. | Last Modified: 6 Oct 2020, 2:49 p.m.

Panel Version: 1.28

Created: 6 Oct 2020, 2:49 p.m.
Last Modified: 6 Oct 2020, 2:49 p.m.
Panel version: 1.28

Zornitza Stark (Australian Genomics)

Red List (low evidence)

One consanguineous family reported.
Sources: Literature
Created: 1 May 2020, 10:22 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Publications

Created: 1 May 2020, 10:22 a.m.

Panel version: 1.3

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Red

Phenotypes

sclerosing cholangitis
short stature
hypothyroidism
abnormal tongue pigmentation

Clinvar variants

Variants in PPM1F

Penetrance

None

Publications

Panels with this gene

Cholestasis

History Filter Activity

6 Oct 2020, Gel status: 1

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

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

1 May 2020, Gel status: 0

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

Zornitza Stark (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; 30976738 Phenotypes for gene: PPM1F were set to sclerosing cholangitis; short stature; hypothyroidism; abnormal tongue pigmentation Review for gene: PPM1F was set to RED

Cholestasis Gene: PPM1F