MAPK1

mitogen-activated protein kinase 1
OMIM: 176948, Gene2Phenotype

4 panels

Panel Reviews Mode of inheritance Details
4 panels
Green MAPK1 in Fetal anomalies


Level 2: Fetal (including NIPD)
Version 8.4
Latest signed off version: v8.0 (12 Aug 2026)

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Noonan syndrome 13, OMIM:619087
Green MAPK1 in DDG2P


Version 8.1
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
    • MAPK1-related Neurodevelopmental Disorder
    Green MAPK1 in Intellectual disability


    Level 2: Developmental disorders
    Version 11.13
    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, imprinted status unknown
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Noonan syndrome 13, OMIM:619087
    Amber MAPK1 in Monogenic short stature


    Level 2: Endocrinology
    Version 2.9
    Latest signed off version: v2.8 (12 Aug 2026)

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review
    • Expert Review Amber
    Phenotypes
    • Noonan syndrome 13, OMIM:619087