1. Genes and Genomic Entities
  2. PPM1K

PPM1K

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

3 panels

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

Level 3: Specific metabolic abnormalities
Level 2: Metabolic disorders
Version 1.643

review Unknown
Sources
  • Expert Review Red
  • UKGTN
Phenotypes
  • ?Maple syrup urine disease, mild variant 615135
Red PPM1K in Likely inborn error of metabolism


Level 2: Metabolic
Version 8.100
Latest signed off version: v8.0 (30 Apr 2025)

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
    Red PPM1K in DDG2P


    Version 6.438
    Latest signed off version: v6.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • DD-Gene2Phenotype
    • Expert Review Red
    Phenotypes
    • PPM1K-related maple syrup urine disease