Genomics England
GMS Panels
Panels
Genes and Entities

MAP3K7

mitogen-activated protein kinase kinase kinase 7
OMIM: 602614
PanelMode of inheritanceDetails
5 panels
Green
in Clefting
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 6.5
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Frontometaphyseal dysplasia 2, 617137, FMD2, autosomal dominant FMD, AD-FMD
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 5.48
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
FRONTOMETAPHYSEAL DYSPLASIA 305620, Cardiospondylocarpofacial syndrome
Green
in Fetal anomalies
R-numbers: R21, R412
Signed-off version 5.80
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Cardiospondylocarpofacial syndrome, OMIM:157800, Cardiospondylocarpofacial syndrome, MONDO:0008005, Frontometaphyseal dysplasia 2, OMIM:617137, Frontometaphyseal dysplasia 2, MONDO:0014935
Green
in Paediatric or syndromic cardiomyopathy
Component of the following Super Panels:
  • - Unexplained death in infancy and sudden unexplained death in childhood
R-numbers: R135
Signed-off version 6.7
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Cardiospondylocarpofacial syndrome, OMIM:157800
Green
in Skeletal dysplasia
Component of the following Super Panels:
  • - Paediatric disorders
R-numbers: R104
Signed-off version 7.26
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Frontometaphyseal dysplasia 2, 617137