MAP3K20

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

4 panels

Panel Reviews Mode of inheritance Details
4 panels

Green MAP3K20 in Neuromuscular disorders


Version 5.243
Latest signed off version: v5.43 (4 Mar 2020)

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 2.59
Latest signed off version: v2.2 (2 Mar 2020)

Component of the following Super Panels:

  • Hypotonic infant
  • 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
    • Myopathy, centronuclear, 6, with fiber-type disproportion, MONDO:0054695

    Amber MAP3K20 in Fetal anomalies


    Version 1.732
    Latest signed off version: v1.92 (21 Aug 2020)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • 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
    Tags
    • for-review

    Green MAP3K20 in Severe Paediatric Disorders


    Version 1.84

    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