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STRs in panel
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Inborn errors of metabolism

Gene: PPM1K

Red List (low evidence)

PPM1K (protein phosphatase, Mg2+/Mn2+ dependent 1K)
EnsemblGeneIds (GRCh38): ENSG00000163644
EnsemblGeneIds (GRCh37): ENSG00000163644
OMIM: 611065, Gene2Phenotype
PPM1K is in 2 panels

1 review

Sarah Leigh (Genomics England Curator)

Red List (low evidence)

Single variant reported
Created: 23 Feb 2017, 5:15 p.m.

Mode of inheritance
Unknown

Phenotypes
?Maple syrup urine disease, mild variant 615135

Details

Mode of Inheritance
Unknown
Sources
  • Expert Review Red
Phenotypes
  • ?Maple syrup urine disease, mild variant 615135
OMIM
611065
Clinvar variants
Variants in PPM1K
Penetrance
None
Panels with this gene

History Filter Activity

8 Jan 2019, Gel status: 1

Panel promoted to version 1.0

Ellen McDonagh (Genomics England Curator)

Sarah Leigh: Associated with phenotype in O

16 Dec 2018, Gel status: 1

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

Ellen McDonagh (Genomics England Curator)

gene: PPM1K was added gene: PPM1K was added to Inborn errors of metabolism. Sources: Expert Review Red Mode of inheritance for gene: PPM1K was set to Unknown Phenotypes for gene: PPM1K were set to ?Maple syrup urine disease, mild variant 615135