Skeletal dysplasia
Gene: MAP3K7
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 LesterCreated: 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
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 SDCreated: 6 Mar 2019, 11:36 a.m.
Comment on list classification: Sufficient cases with an appropriate phenotypeCreated: 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
Added phenotypes Frontometaphyseal dysplasia 2, 617137 for gene: MAP3K7
Source NHS GMS was added to MAP3K7. Rating Changed from Green List (high evidence) to Green List (high evidence)
Gene: map3k7 has been classified as Green List (High Evidence).
Gene: map3k7 has been classified as Green List (High Evidence).
MAP3K7 was added to Unexplained skeletal dysplasia panel. Sources: Literature
MAP3K7 was created by Helen Brittain