1. Genes and Genomic Entities
  2. PPM1K

PPM1K

protein phosphatase, Mg2+/Mn2+ dependent 1K
OMIM: 611065, Gene2Phenotype

2 panels

Panel Reviews Mode of inheritance Details
2 panels
Red PPM1K in Undiagnosed metabolic disorders

Level 3: Specific metabolic abnormalities
Level 2: Metabolic disorders
Version 1.617

review Unknown
Sources
  • Expert Review Red
  • UKGTN
Phenotypes
  • ?Maple syrup urine disease, mild variant 615135
Red PPM1K in Likely inborn error of metabolism - targeted testing not possible


Version 4.137
Latest signed off version: v4.0 (22 Mar 2023)

Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders
  • Unexplained death in infancy and sudden unexplained death in childhood

    		•  review Unknown
    Sources
    • Expert Review Red
    Phenotypes
    • ?Maple syrup urine disease, mild variant 615135