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Skeletal dysplasia

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 6 panels

3 reviews

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, 11:44 a.m.

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

Phenotypes
Frontometaphyseal dysplasia 2, 617137

Publications

Mode of pathogenicity
Other - please provide details in the comments

Created: 6 Mar 2019, 11:44 a.m.

Panel version: 1.147

Eleanor Williams (Genomics England Curator)

I don't know

This gene was part of an initial gene list collated by Tracy Lester, Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust, February 2019 on behalf of the GMS Musculoskeletal Specialist Group; Gene symbol submitted: MAP3K7; Initial rating suggestion: green if SD
Created: 6 Mar 2019, 11:36 a.m.
Created: 6 Mar 2019, 11:36 a.m.

Panel version: 1.146

Helen Brittain (Genomics England Curator)

Green List (high evidence)

Comment on list classification: Sufficient cases with an appropriate phenotype
Created: 26 Jun 2018, 1:48 p.m.
Sufficient cases, appropriate phenotype. Note that only missense reported to date, including recurrent P485L across a number of populations.
Created: 26 Jun 2018, 1:46 p.m.

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

Phenotypes
Frontometaphyseal dysplasia 2, 617137

Publications

Mode of pathogenicity
Other

Created: 26 Jun 2018, 1:46 p.m.

Panel version: 1.102

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • NHS GMS
  • Expert Review Green
  • Literature
Phenotypes
  • Frontometaphyseal dysplasia 2, 617137
OMIM
602614
Clinvar variants
Variants in MAP3K7
Penetrance
unknown
Publications
Mode of Pathogenicity
Other - please provide details in the comments
Panels with this gene

History Filter Activity

6 May 2019, Gel status: 4

Set Phenotypes

Eleanor Williams (Genomics England Curator)

Added phenotypes Frontometaphyseal dysplasia 2, 617137 for gene: MAP3K7

6 Mar 2019, Gel status: 3

Added New Source, Status Update

Eleanor Williams (Genomics England Curator)

Source NHS GMS was added to MAP3K7. Rating Changed from Green List (high evidence) to Green List (high evidence)

26 Jun 2018, Gel status: 3

Entity classified by Genomics England curator

Helen Brittain (Genomics England Curator)

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

26 Jun 2018, Gel status: 3

Entity classified by Genomics England curator

Helen Brittain (Genomics England Curator)

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

26 Jun 2018, Gel status: 1

Added New Source

Helen Brittain (Genomics England Curator)

MAP3K7 was added to Unexplained skeletal dysplasia panel. Sources: Literature

26 Jun 2018, Gel status: 1

Created

Helen Brittain (Genomics England Curator)

MAP3K7 was created by Helen Brittain