DDG2P
Gene: PPM1K

PPM1K (protein phosphatase, Mg2+/Mn2+ dependent 1K)
EnsemblGeneIds (GRCh38): ENSG00000163644
EnsemblGeneIds (GRCh37): ENSG00000163644
OMIM: 611065, Gene2Phenotype
PPM1K is in 3 panels

1 review

Achchuthan Shanmugasundram (Genomics England Curator)

Red List (low evidence)

The DDG2P confidence category for the disease PPM1K-related maple syrup urine disease is limited. The allelic requirement and mutation consequence are biallelic_autosomal and absent gene product (PMID: 36706222;23086801).
Created: 26 Sep 2024, 8:30 p.m. | Last Modified: 26 Sep 2024, 8:30 p.m.

Panel Version: 4.10

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
PPM1K-related maple syrup urine disease

Publications

Created: 26 Sep 2024, 8:30 p.m.
Last Modified: 26 Sep 2024, 8:30 p.m.
Panel version: 4.10

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

DD-Gene2Phenotype
Expert Review Red

Phenotypes

PPM1K-related maple syrup urine disease

OMIM

611065

Clinvar variants

Variants in PPM1K

Penetrance

None

Publications

Panels with this gene

History Filter Activity

26 Sep 2024, Gel status: 1

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

Achchuthan Shanmugasundram (Genomics England Curator)

gene: PPM1K was added gene: PPM1K was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: PPM1K was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PPM1K were set to 23086801; 36706222 Phenotypes for gene: PPM1K were set to PPM1K-related maple syrup urine disease

DDG2P Gene: PPM1K