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Cerebral Palsy

Gene: MEF2C

Green List (high evidence)
MEF2C (myocyte enhancer factor 2C)
EnsemblGeneIds (GRCh38): ENSG00000081189
EnsemblGeneIds (GRCh37): ENSG00000081189
OMIM: 600662, Gene2Phenotype
MEF2C is in 10 panels

2 reviews

Clare van Eyk (University of Adelaide)

Green List (high evidence)

Additional individual with heterozygous frameshift deletion in MEF2C reported in WGS study of clinically confirmed CP (PMID: 38553553).
Created: 27 Jun 2024, 3:58 a.m. | Last Modified: 27 Jun 2024, 3:58 a.m.
Panel Version: 1.348

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language MIM#613443

Publications

Created: 27 Jun 2024, 3:58 a.m.
Last Modified: 27 Jun 2024, 3:58 a.m.
Panel version: 1.348

Luisa Weiss (University of Adelaide)

Green List (high evidence)

Two patients in two large CP cohort studies with MEF2C mutations/deletions. In addition, one case report of two patients with MEF2C mutation with one of them diagnosed as having CP.
Sources: Literature
Created: 19 Jun 2023, 5:34 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language MIM#613443

Publications

Created: 19 Jun 2023, 5:34 a.m.

Panel version: 1.88

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
Phenotypes
  • Neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language MIM#613443
OMIM
600662
Clinvar variants
Variants in MEF2C
Penetrance
None
Publications
Panels with this gene

History Filter Activity

10 Jul 2023, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: mef2c has been classified as Green List (High Evidence).

10 Jul 2023, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: mef2c has been classified as Green List (High Evidence).

19 Jun 2023, Gel status: 0

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Luisa Weiss (University of Adelaide)

gene: MEF2C was added gene: MEF2C was added to Cerebral Palsy. Sources: Literature Mode of inheritance for gene: MEF2C was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: MEF2C were set to 20412115; 25817843; 33528536 Phenotypes for gene: MEF2C were set to Neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language MIM#613443 Review for gene: MEF2C was set to GREEN