PRKACB

protein kinase cAMP-activated catalytic subunit beta
OMIM: 176892, Gene2Phenotype

2 panels

Panel Reviews Mode of inheritance Details
2 panels

Green PRKACB in Limb disorders


Version 2.79
Latest signed off version: v2.2 (13 Feb 2020)

Component of the following Super Panels:

  • Paediatric disorders
  • review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Postaxial hand polydactyly
    • Postaxial foot polydactyly
    • Common atrium
    • Atrioventricular canal defect
    • Narrow chest
    • Abnormality of the teeth
    • Intellectual disability

    Amber PRKACB in Intellectual disability

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 3.1677
    Latest signed off version: v3.2 (13 Feb 2020)

    Component of the following Super Panels:

  • Hypotonic infant
  • Paediatric disorders
  • White matter disorders - childhood onset
  • review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • Postaxial hand polydactyly
    • Postaxial foot polydactyly
    • Common atrium
    • Atrioventricular canal defect
    • Narrow chest
    • Abnormality of the teeth
    • Intellectual disability