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Intellectual disability

Gene: MAP3K7

Red List (low evidence)

MAP3K7 (mitogen-activated protein kinase kinase kinase 7)
EnsemblGeneIds (GRCh38): ENSG00000135341
EnsemblGeneIds (GRCh37): ENSG00000135341
OMIM: 602614, Gene2Phenotype
MAP3K7 is in 5 panels

1 review

Catherine Snow (Genomics England)

Red List (low evidence)

Following advice from Genomics England Clinical Team MAP3K7 will be classified as red. Feedback was " I would avoid inclusion of this gene on the ID panel at this stage. As you point out, it is a relatively uncommon feature and, when present, is mild. Therefore I do not think that the phenotype matches the scope of the panel very well."
Created: 19 Jun 2019, 1:02 p.m.
Comment on phenotypes: Other phenotype reported at MAP3K7 is Cardiospondylocarpofacial syndrome, 157800, but is not relevant for ID
Created: 12 Jun 2019, 1:04 p.m.
Comment on list classification: Gene identified in literature PMID:30914295 as missing in PanelApp compared to other curated gene list for ID genes

19 individuals with Frontometaphyseal Dysplasia (FMD) without FLNA mutations reported on in PMID:27426733. Of these 18/19 have a mutation in MAP3K7. ID is reported in just 4/18 and all four have the same mutation c.1454C>T. Of the 4/18 2 are de novo mutations and the other 2 are unknown, all individuals are from different ancestry. As ID is not reported in a majority of cases classifying gene as Amber and adding to watchlist to await for further information.
Created: 22 May 2019, 1:32 p.m.

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • Literature
  • Literature
Phenotypes
  • Frontometaphyseal dysplasia 2, 617137
OMIM
602614
Clinvar variants
Variants in MAP3K7
Penetrance
None
Publications
Panels with this gene

History Filter Activity

25 Jul 2019, Gel status: 1

Set mode of inheritance

Catherine Snow (Genomics England)

Mode of inheritance for gene MAP3K7 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

25 Jul 2019, Gel status: 1

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

Catherine Snow (Genomics England)

gene: MAP3K7 was added gene: MAP3K7 was added to Intellectual disability. Sources: Literature,Expert Review Red Mode of inheritance for gene: MAP3K7 was set to Publications for gene: MAP3K7 were set to 27426733; 30914295 Phenotypes for gene: MAP3K7 were set to Frontometaphyseal dysplasia 2, 617137