Genomics England
GMS Panels
Panels
Genes and Entities

MAP3K1

mitogen-activated protein kinase kinase kinase 1
OMIM: 600982
PanelMode of inheritanceDetails
3 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 5.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
46XY SEX REVERSAL 6 613762
Green
in Differences in sex development
R-numbers: R146
Signed-off version 4.5
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
46XY sex reversal 6 613762
Green
in Fetal anomalies
R-numbers: R21, R412
Signed-off version 5.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
46XY SEX REVERSAL 6