Fetal anomalies
Gene: MAP2K1

MAP2K1 (mitogen-activated protein kinase kinase 1)
EnsemblGeneIds (GRCh38): ENSG00000169032
EnsemblGeneIds (GRCh37): ENSG00000169032
OMIM: 176872, Gene2Phenotype
MAP2K1 is in 20 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, 10:30 a.m. | Last Modified: 11 Sep 2020, 10:30 a.m.

Panel Version: 0.49

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Cardiofaciocutaneous syndrome 3, MIM# 615279

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, 10:30 a.m.
Last Modified: 11 Sep 2020, 10:30 a.m.
Panel version: Imported from Rasopathy panel version 0.49

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Expert Review Green
Genomics England PanelApp
Victorian Clinical Genetics Services

Phenotypes

Cardiofaciocutaneous syndrome 3, MIM# 615279

OMIM

176872

Clinvar variants

Variants in MAP2K1

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