1. Genes and Genomic Entities
  2. PPP2R5C

PPP2R5C

protein phosphatase 2 regulatory subunit B'gamma
OMIM: 601645, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels
Green PPP2R5C in DDG2P


Version 8.1
Latest signed off version: v8.0 (12 Aug 2026)

Component of the following Super Panels:

  • Paediatric disorders

    		•  review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • PPP2R5C-related neurodevelopmental disorder with macrocephaly and hypotonia, with or without seizures
    • MONDO:0100038
    Green PPP2R5C in Early onset or syndromic epilepsy


    Level 2: Neurology
    Version 9.57
    Latest signed off version: v9.56 (12 Aug 2026)

    Component of the following Super Panels:

  • Paediatric disorders
  • Unexplained death in infancy and sudden unexplained death in childhood

    		•  review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    • NHS GMS
    • Literature
    Phenotypes
    • Houge-Janssens syndrome 4, OMIM:621185
    Green PPP2R5C in Intellectual disability


    Level 2: Developmental disorders
    Version 11.1
    Latest signed off version: v11.0 (12 Aug 2026)

    Component of the following Super Panels:

  • Hypotonic infant
  • Leukodystrophy, childhood onset
  • Paediatric disorders

    		•  review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    • NHS GMS
    • Literature
    Phenotypes
    • Houge-Janssens syndrome 4, OMIM:621185