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Mendeliome

Gene: MAP3K7

Green List (high 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

Michelle Torres (Victorian Clinical Genetics Services)

Green List (high evidence)

Cardiospondylocarpofacial (CSCF) : missense and inframe deletion causing loss-of-function (PMID: 27426734)
Frontometaphyseal dysplasia (FMD): missense causing gain-of-function (PMID: 27426733)
Created: 6 Mar 2020, 3:38 a.m. | Last Modified: 6 Mar 2020, 3:38 a.m.
Panel Version: 0.1635

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Cardiospondylocarpofacial syndrome 157800 AD; Frontometaphyseal dysplasia 2 617137 AD

Publications

Mode of pathogenicity
Other

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Cardiospondylocarpofacial syndrome 157800 AD
  • Frontometaphyseal dysplasia 2 617137 AD
OMIM
602614
Clinvar variants
Variants in MAP3K7
Penetrance
None
Publications
Mode of Pathogenicity
Other
Panels with this gene

History Filter Activity

14 Apr 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: map3k7 has been classified as Green List (High Evidence).

14 Apr 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: MAP3K7 were changed from to Cardiospondylocarpofacial syndrome 157800 AD; Frontometaphyseal dysplasia 2 617137 AD

14 Apr 2020, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: MAP3K7 were set to

14 Apr 2020, Gel status: 3

Set mode of pathogenicity

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of pathogenicity for gene: MAP3K7 was changed from to Other

14 Apr 2020, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: MAP3K7 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: MAP3K7 was added gene: MAP3K7 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: MAP3K7 was set to Unknown