1. Genes and Genomic Entities
  2. PPP2CA

PPP2CA

protein phosphatase 2 catalytic subunit alpha
OMIM: 176915, Gene2Phenotype

4 panels

Panel Reviews Mode of inheritance Details
4 panels
Green PPP2CA in Fetal anomalies


Level 2: Fetal (including NIPD)
Version 6.157
Latest signed off version: v6.0 (30 Apr 2025)

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Neurodevelopmental disorder and language delay with or without structural brain abnormalities, OMIM:618354
Green PPP2CA in DDG2P


Version 6.426
Latest signed off version: v6.0 (30 Apr 2025)

Component of the following Super Panels:

  • Paediatric disorders

    		•  review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    • DD-Gene2Phenotype
    Phenotypes
    • Syndromic Intellectual Disability Resembling Other PP2A Related Neurodevelopmental Disorders
    Green PPP2CA in Early onset or syndromic epilepsy


    Level 2: Neurology
    Version 8.147
    Latest signed off version: v8.0 (30 Apr 2025)

    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
    • Wessex and West Midlands GLH
    • NHS GMS
    • Expert Review
    • Expert Review Green
    • Expert Review Green
    • Expert Review
    • Literature
    Phenotypes
    • Abnormality of nervous system morphology
    • Seizures
    • Language impairment
    • Muscular hypotonia
    • Feeding difficulties
    • Intellectual disability
    • Neurodevelopmental disorder and language delay with or without structural brain abnormalities, 618354
    • Global developmental delay
    Green PPP2CA in Intellectual disability


    Level 2: Developmental disorders
    Version 9.304
    Latest signed off version: v9.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders

    		•  review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review
    • Expert Review Green
    • Expert Review Green
    • Expert Review
    • Literature
    Phenotypes
    • Abnormality of nervous system morphology
    • Seizures
    • Language impairment
    • Muscular hypotonia
    • Feeding difficulties
    • Intellectual disability
    • Neurodevelopmental disorder and language delay with or without structural brain abnormalities, 618354
    • Global developmental delay