Clefting
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

Rebecca Foulger (Genomics England curator)

Green List (high evidence)

Basart et al. 2015, PMID 25899317 described 7 unrelated patients with features of FMD with cleft palate seen in 4 patients- they rule out FLNA mutations but do not identify an alternative mutation for the condition. Frontometaphyseal dysplasia (FMD) is caused by G.O.F mutations in X-linked FLNA, and autosomal-dominant FMD can be caused by MAP3K7 mutations. PMID:28498505 (2017) report that cleft palate is more common in AD-FMD, occurring in 6/19 (32%) patients presented in the paper. Therefore sufficient clefting cases for inclusion on panel.
Created: 31 May 2017, 12:27 p.m.

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

Phenotypes
Frontometaphyseal dysplasia 2, 617137; FMD2; autosomal dominant FMD; AD-FMD

Publications

Created: 31 May 2017, 11 a.m.

Panel version: 0.284

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Sources

Expert Review Green

Phenotypes

Frontometaphyseal dysplasia 2, 617137
FMD2
autosomal dominant FMD
AD-FMD

OMIM

602614

Clinvar variants

Variants in MAP3K7

Penetrance

Complete

Publications

Panels with this gene

History Filter Activity

31 May 2017, Gel status: 4

panel promoted to version 1

Louise Daugherty (Genomics England Curator)

Panel reviews were assessed, and panel was revised according to reviews and further curation 31st May 2017

31 May 2017, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

MAP3K7 was created by ellenmcdonagh