Rasopathy
Gene: MAP2K2

MAP2K2 (mitogen-activated protein kinase kinase 2)
EnsemblGeneIds (GRCh38): ENSG00000126934
EnsemblGeneIds (GRCh37): ENSG00000126934
OMIM: 601263, Gene2Phenotype
MAP2K2 is in 15 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Cardiofaciocutaneous syndrome (CFC) is a complex developmental disorder involving characteristic craniofacial features, cardiac anomalies, hair and skin abnormalities, postnatal growth deficiency, hypotonia, and developmental delay. Well established gene-disease association, variants in MAP2K1 and MAP2K2 account for ~25%.
Created: 11 Sep 2020, 10:36 a.m. | Last Modified: 11 Sep 2020, 10:36 a.m.

Panel Version: 0.53

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Cardiofaciocutaneous syndrome 4, MIM# 615280

Publications

Mode of pathogenicity
Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments

Created: 11 Sep 2020, 10:36 a.m.
Last Modified: 11 Sep 2020, 10:36 a.m.
Panel version: 0.53

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Expert Review Green
Victorian Clinical Genetics Services

Phenotypes

Cardiofaciocutaneous syndrome 4, MIM# 615280

OMIM

601263

Clinvar variants

Variants in MAP2K2

Penetrance

None

Publications

Mode of Pathogenicity

Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments

Panels with this gene