PanelApp (test)
  1. Genes and Genomic Entities
  2. MAP3K20

MAP3K20

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

7 panels

Panel Reviews Mode of inheritance Details
7 panels

Green MAP3K20 in Craniosynostosis


Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.68

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Syndromic disease, MONDO:0002254, MAP3K20-related

Green MAP3K20 in Mendeliome


Version 1.1902

review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Syndromic disease, MONDO:0002254, MAP3K20-related
  • Centronuclear myopathy 6 with fiber-type disproportion MIM#617760
  • Split-foot malformation with mesoaxial polydactyly MIM#616890

Green MAP3K20 in Muscular dystrophy and myopathy_Paediatric


Level 2: Neurology and neurodevelopmental disorders
Version 1.33

Component of the following Super Panels:

  • Myopathy Superpanel
  • Neuromuscular Superpanel

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Other
    • Royal Melbourne Hospital
    Phenotypes
    • Centronuclear myopathy 6 with fiber-type disproportion (MIM#617760
    • MONDO:0054695)

    Green MAP3K20 in Polydactyly


    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 0.276

    Component of the following Super Panels:

  • Limb and Digital Malformations SuperPanel

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Split-foot malformation with mesoaxial polydactyly MIM#616890

    Green MAP3K20 in Deafness_IsolatedAndComplex


    Level 2: Hearing and ear disorders
    Version 1.194

    		review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Syndromic disease, MONDO:0002254, MAP3K20-related

    Green MAP3K20 in Ectodermal Dysplasia


    Level 2: Dermatological disorders
    Version 0.86

    		review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Syndromic disease, MONDO:0002254, MAP3K20-related

    Green MAP3K20 in Fetal anomalies


    Version 1.255

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