PPP2R1A

protein phosphatase 2 scaffold subunit Aalpha
OMIM: 605983, Gene2Phenotype

5 panels

Panel Reviews Mode of inheritance Details
5 panels
Amber PPP2R1A in Malformations of cortical development


Level 2: Neurology
Version 8.11
Latest signed off version: v8.6 (12 Aug 2026)

Component of the following Super Panels:

  • Cerebral malformation
  • Paediatric disorders
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • Houge-Janssens syndrome 2, OMIM:616362
    • Houge-Janssens syndrome 2, MONDO:0014605
    Tags
    • Q1_26_promote_green
    Green PPP2R1A in Fetal anomalies


    Level 2: Fetal (including NIPD)
    Version 8.7
    Latest signed off version: v8.0 (12 Aug 2026)

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • PAGE DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • Houge-Janssens syndrome 2, OMIM:616362
    Green PPP2R1A in DDG2P


    Version 8.2
    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
    • INTELLECTUAL DISABILITY
    Amber PPP2R1A in Early onset or syndromic epilepsy


    Level 2: Neurology
    Version 9.76
    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, NOT imprinted
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • Houge-Janssens syndrome 2, OMIM:616362
    • Houge-Janssens syndrome 2, MONDO:0014605
    Tags
    • Q1_26_promote_green
    Green PPP2R1A in Intellectual disability


    Level 2: Developmental disorders
    Version 11.28
    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, NOT imprinted
    Sources
    • Expert Review Green
    Phenotypes
    • Houge-Janssens syndrome 2, OMIM:616362
    • Houge-Janssens syndrome 2, MONDO:0014605