PPP3CA

protein phosphatase 3 catalytic subunit alpha
OMIM: 114105, Gene2Phenotype

5 panels

Panel Reviews Mode of inheritance Details
5 panels

Green PPP3CA in Arthrogryposis


Level 2: Neurology and neurodevelopmental disorders
Version 0.417

Component of the following Super Panels:

  • Neuromuscular Superpanel
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development, OMIM #618265

    Green PPP3CA in Mendeliome


    Version 1.2374

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Developmental and epileptic encephalopathy 91, MIM#617711
    • Arthrogryposis, cleft palate, craniosynostosis and impaired intellectual development, MIM#618265

    Green PPP3CA in Genetic Epilepsy


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.119

    Component of the following Super Panels:

  • Progressive Neurological Conditions
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    • Australian Genomics Health Alliance Epilepsy Flagship
    Phenotypes
    • Developmental and epileptic encephalopathy 91, MIM#617711

    Green PPP3CA in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.83

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Genetic Health Queensland
    Phenotypes
    • Arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development MIM#618265
    • Developmental and epileptic encephalopathy 91 MIM617711

    Amber PPP3CA in Fetal anomalies


    Version 1.314

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Amber
    • Genomics England PanelApp
    Phenotypes
    • Arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development MIM#618265