1. Genes and Genomic Entities
  2. PPM1B

PPM1B

protein phosphatase, Mg2+/Mn2+ dependent 1B
OMIM: 603770, Gene2Phenotype

2 panels

Panel Reviews Mode of inheritance Details
2 panels
Red PPM1B in Undiagnosed metabolic disorders

Level 3: Specific metabolic abnormalities
Level 2: Metabolic disorders
Version 1.642

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Hypotonia-cystinuria syndrome (Mitochondrial respiratory chain disorders (caused by nuclear variants only))
Red PPM1B in Likely inborn error of metabolism


Level 2: Metabolic
Version 8.91
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 BIALLELIC, autosomal or pseudoautosomal
    Sources
    • London North GLH
    • NHS GMS
    • Expert Review Red
    Phenotypes
    • Hypotonia-cystinuria syndrome (Mitochondrial respiratory chain disorders (caused by nuclear variants only))