MEF2C Chromosome 5
Myocyte enhancer factor 2C
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What This Gene Does
This locus encodes a member of the MADS box transcription enhancer factor 2 (MEF2) family of proteins, which play a role in myogenesis. The encoded protein, MEF2 polypeptide C, has both trans-activating and DNA binding activities. This protein may play a role in maintaining the differentiated state of muscle cells. Mutations and deletions at this locus have been associated with severe cognitive disability, stereotypic movements, epilepsy, and cerebral malformation. Alternatively spliced transcript variants have been described. [provided by RefSeq, Jul 2010]
Gene Info
Gene Group
"Myocyte enhancer factor 2 proteins|MADS box family"
Locus Type
gene with protein product
Location
5q14.3
Ensembl
ENSG00000081189
Associated Conditions (15)
Neurodevelopmental disorder with hypotonia
stereotypic hand movements
and impaired language
Inborn genetic diseases
Syndromic intellectual disability
MEF2C-related disorder
Frontotemporal dementia
Intellectual disability
Epileptic encephalopathy
Autosomal dominant epilepsy
Autism spectrum disorder
Seizure
Neurodevelopmental disorder
MEF2C Haploinsufficiency Syndrome
5q14.3 microdeletion syndrome
Key Variants
RS1057521717
Conflicting classifications of pathogenicity
Neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language
Health Risk
RS1432291994
Conflicting classifications of pathogenicity
Neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language
Health Risk
RS1554150607
Conflicting classifications of pathogenicity
Neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language
Health Risk
RS1761818173
Conflicting classifications of pathogenicity
Neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language
Health Risk
RS1799660837
Conflicting classifications of pathogenicity
Neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language
Health Risk
RS200518765
Conflicting classifications of pathogenicity
Neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language
Health Risk
RS200887424
Conflicting classifications of pathogenicity
Neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language
Health Risk
RS368575766
Conflicting classifications of pathogenicity
Neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language
Health Risk
RS371858773
Conflicting classifications of pathogenicity
Neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language
Health Risk
RS376439815
Conflicting classifications of pathogenicity
Neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language
Health Risk
RS398123686
Conflicting classifications of pathogenicity
Neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language
Health Risk
RS752349182
Conflicting classifications of pathogenicity
Neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language
Health Risk
All Variants (111)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS786200981 | Health Risk | Pathogenic | — |
| RS796052733 | Health Risk | Pathogenic | Autism spectrum disorder, Intellectual disability, 5q14.3 microdeletion syndrome |
| RS876661308 | Health Risk | Pathogenic | Neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language |
| RS1554150590 | Health Risk | Pathogenic/Likely pathogenic | — |
| RS1561875779 | Health Risk | Pathogenic/Likely pathogenic | Inborn genetic diseases, Neurodevelopmental disorder with hypotonia, stereotypic hand movements |
| RS2152281284 | Health Risk | Pathogenic/Likely pathogenic | Neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language |
| RS2153074771 | Health Risk | Pathogenic/Likely pathogenic | Neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language |
| RS545185248 | Health Risk | Pathogenic/Likely pathogenic | Neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language |
| RS587783747 | Health Risk | Pathogenic/Likely pathogenic | Neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language |
| RS796052728 | Health Risk | Pathogenic/Likely pathogenic | Autism spectrum disorder, Neurodevelopmental disorder with hypotonia, stereotypic hand movements |
| RS869312698 | Health Risk | Pathogenic/Likely pathogenic | Neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language |