1. Genes and Genomic Entities
  2. MAP3K20

MAP3K20

mitogen-activated protein kinase kinase kinase 20
OMIM: 609479, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels
Green MAP3K20 in Congenital myopathy


Level 2: Neurology
Version 6.45
Latest signed off version: v6.0 (30 Apr 2025)

Component of the following Super Panels:

  • Hypotonic infant
  • Other rare neuromuscular disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • London South GLH
    • Expert Review Green
    • UCL
    Phenotypes
    • Centronuclear myopathy 6 with fiber-type disproportion, OMIM:617760
    Green MAP3K20 in Fetal anomalies


    Level 2: Fetal (including NIPD)
    Version 6.140
    Latest signed off version: v6.0 (30 Apr 2025)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Centronuclear myopathy 6 with fiber-type disproportion, OMIM:617760
    • Myopathy, centronuclear, 6, with fiber-type disproportion, MONDO:0054695
    • Split-foot malformation with mesoaxial polydactyly, OMIM:616890
    • Split-foot malformation-mesoaxial polydactyly syndrome, MONDO:0014816
    Green MAP3K20 in DDG2P


    Version 6.424
    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
    • MONDO:0054695
    • MAP3K20-related ectodermal dysplasia with craniosynostosis, sensorineural hearing loss, and limb anomalies
    • OMIM:617760.0
    • MAP3K20-related centronuclear myopathy
    • OMIM:616890.0
    • MAP3K20-related split-foot malformation with mesoaxial polydactyly
    • MONDO:0014816