Intellectual_disability
Gene: MEF2C

MEF2C (myocyte enhancer factor 2C)
EnsemblGeneIds (GRCh38): ENSG00000081189
EnsemblGeneIds (GRCh37): ENSG00000081189
OMIM: 600662, Gene2Phenotype
MEF2C is in 7 panels

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Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Sources

Radboud University Medical Center, Nijmegen
Illumina TruGenome Clinical Sequencing Services
Known gene (Grozeva et al, 2015)
Known gene (Grozeva et al, 2015)
Emory Genetics Laboratory

Phenotypes

Mental Retardation, Stereotypic Movements, Epilepsy, and/orCerebral Malformations
Le Meur et al. (2010) describe six unrelated children with a deletion or mutation of the MEF2C gene (5q14). All six patients had a similar phenotype including severe intellectual disability, developmental delay, hypotonia, absent speech, and the inability to walk unaided. Variable features include stereotypic movements, epilepsy and/or cerebral malformations, and dysmorphic features. Mutation of the MEF2C gene causes autosomal dominant mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations.
Mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations, 613443Chromosome 5q14.3 deletion syndrome, 613443
Intellectual disability

OMIM

600662

Clinvar variants

Variants in MEF2C

Penetrance

Complete

Panels with this gene