MAPKAPK5

mitogen-activated protein kinase-activated protein kinase 5
OMIM: 606723, Gene2Phenotype

4 panels

Panel Reviews Mode of inheritance Details
4 panels
Green MAPKAPK5 in Limb disorders


Level 2: Musculoskeletal
Version 7.34
Latest signed off version: v7.0 (30 Apr 2025)

Component of the following Super Panels:

  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • NHS GMS
    • Literature
    Phenotypes
    • Neurocardiofaciodigital syndrome, OMIM:619869
    Green MAPKAPK5 in Fetal anomalies


    Level 2: Fetal (including NIPD)
    Version 6.196
    Latest signed off version: v6.0 (30 Apr 2025)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • NHS GMS
    Phenotypes
    • Neurocardiofaciodigital syndrome, OMIM:619869
    Green MAPKAPK5 in DDG2P


    Version 6.447
    Latest signed off version: v6.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • MAPKAPK5-associated syndrome with synpolydactyly
    Green MAPKAPK5 in Intellectual disability


    Level 2: Developmental disorders
    Version 9.400
    Latest signed off version: v9.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • NHS GMS
    • Literature
    Phenotypes
    • Neurocardiofaciodigital syndrome, OMIM:619869