MAPK1

mitogen-activated protein kinase 1
OMIM: 176948, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels
Green MAPK1 in DDG2P


Version 3.88
Latest signed off version: v3.1 (22 Mar 2023)

Component of the following Super Panels:

  • Paediatric disorders
  • review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • MAPK1-related Neurodevelopmental Disorder
    Amber MAPK1 in Growth failure in early childhood


    Version 3.94
    Latest signed off version: v3.0 (22 Mar 2023)

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Amber
    • Expert Review
    Phenotypes
    • Noonan syndrome 13, OMIM:619087
    Green MAPK1 in Intellectual disability - microarray and sequencing

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 5.544
    Latest signed off version: v5.0 (22 Mar 2023)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders
  • review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Global developmental delay
    • Intellectual disability
    • Behavioral abnormality
    • Growth delay
    • Abnormality of the face
    • Abnormality of the neck
    • Abnormality of the cardiovascular system
    • Abnormality of the skin