1. Genes and Genomic Entities
  2. MAPKAPK5

MAPKAPK5

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

3 panels

Panel Reviews Mode of inheritance Details
3 panels
Amber MAPKAPK5 in Limb disorders


Version 4.18
Latest signed off version: v4.0 (22 Mar 2023)

Component of the following Super Panels:

  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • Developmental delay, variable brain anomalies, congenital heart defects, dysmorphism
    • Synpolydactyly
    Green MAPKAPK5 in DDG2P


    Version 3.87
    Latest signed off version: v3.1 (22 Mar 2023)

    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
    Amber MAPKAPK5 in Intellectual disability - microarray and sequencing

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 5.532
    Latest signed off version: v5.0 (22 Mar 2023)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • Developmental delay, variable brain anomalies, congenital heart defects, dysmorphism
    Tags
    • watchlist