1. Genes and Genomic Entities
  2. MAP3K20

MAP3K20

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

4 panels

Panel Reviews Mode of inheritance Details
4 panels
Green MAP3K20 in Other rare neuromuscular disorders


Version 19.202
Latest signed off version: v19.1 (22 Mar 2023)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • congenital myopathy with fibre type disproportion
Green MAP3K20 in Congenital myopathy

Level 3: Neuromuscular disorders
Level 2: Neurology and neurodevelopmental disorders
Version 4.37
Latest signed off version: v4.0 (22 Mar 2023)

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


    Version 3.155
    Latest signed off version: v3.0 (22 Mar 2023)

    		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 Severe Paediatric Disorders


    Version 1.184

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Next Generation Children Project
    • 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