GMS Musculoskeletal specialist test group Skeletal dysplasia
Gene: MAP3K7

MAP3K7 (mitogen-activated protein kinase kinase kinase 7)
EnsemblGeneIds (GRCh38): ENSG00000135341
EnsemblGeneIds (GRCh37): ENSG00000135341
OMIM: 602614, Gene2Phenotype
MAP3K7 is in 6 panels

1 review

Tracy Lester (Genetics laboratory, Oxford UK)

Green List (high evidence)

Not in nosology paper but phenotype is frontometaphyseal dysplasia. Several cases reported. recurrent P485L variant in majority of cases. No truncations.; Review on behalf of Tracy Lester
Created: 6 Mar 2019, 11:52 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Frontometaphyseal dysplasia 2, 617137

Publications

27426733

Mode of pathogenicity
Other - please provide details in the comments

Created: 6 Mar 2019, 11:52 a.m.

Panel version: 0.2

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Sources

Expert Review Green
NHS GMS

Phenotypes

Frontometaphyseal dysplasia 2, 617137

OMIM

602614

Clinvar variants

Variants in MAP3K7

Penetrance

None

Panels with this gene

History Filter Activity

6 Mar 2019, Gel status: 4

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Eleanor Williams (Genomics England Curator)

gene: MAP3K7 was added gene: MAP3K7 was added to GMS Musculoskeletal specialist test group Skeletal dysplasia. Sources: NHS GMS,Expert Review Green Mode of inheritance for gene: MAP3K7 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: MAP3K7 were set to Frontometaphyseal dysplasia 2, 617137

GMS Musculoskeletal specialist test group Skeletal dysplasia Gene: MAP3K7