Genetic Epilepsy

Gene: MEF2C

Green List (high evidence)

ID, seizures, cerebral malformations and epilepsy in more than 30 unrelated individuals. Note whole and partial gene deletions are common, and recent report of SNV/CNVs in non-coding region upstream of MEF2C, PMID 34022131.

Created: 6 Jun 2021, 5:07 a.m. | Last Modified: 6 Jun 2021, 5:07 a.m.

Panel Version: 0.1103

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations, MIM# 613443; MONDO:0013266 Edit

Publications

• 19876902
• 19471318
• 19592390
• 19592390
• 20513142
• 34055696
• 34022131

Green List (high evidence)

Loss of function - all deletions and mutations caused significantly decreased MEF2C transcriptional activity (OMIM).

Missense cluster within N-terminal SRF-TF domain, but not exclusively (Decipher)

Created: 18 Jun 2020, 5:30 a.m. | Last Modified: 18 Jun 2020, 5:30 a.m.

Panel Version: 0.3111

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

Phenotypes
Chromosome 5q14.3 deletion syndrome, 613443; Mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations, 613443