Genomics England
GMS Panels
Panels
Genes and Entities

MAP3K20

mitogen-activated protein kinase kinase kinase 20
OMIM: 609479
PanelMode of inheritanceDetails
3 panels
Green
in Congenital myopathy
Component of the following Super Panels:
  • - Hypotonic infant
  • - Other rare neuromuscular disorders
R-numbers: R81
Signed-off version 7.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Centronuclear myopathy 6 with fiber-type disproportion, OMIM:617760
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 7.0
BIALLELIC, autosomal or pseudoautosomal
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
Green
in Fetal anomalies
R-numbers: R21, R412
Signed-off version 7.0
BIALLELIC, autosomal or pseudoautosomal
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