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  3. MEF2C
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Angelman Rett like syndromes

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

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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 a.m. | Last Modified: 6 Jun 2021, 5 a.m.
Panel Version: 0.66

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations, MIM# 613443

Publications

Created: 6 Jun 2021, 5 a.m.
Last Modified: 6 Jun 2021, 5 a.m.
Panel version: 0.66

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations, MIM# 613443
  • MONDO:0013266
Tags
SV/CNV 5'UTR
OMIM
600662
Clinvar variants
Variants in MEF2C
Penetrance
None
Publications
Panels with this gene

History Filter Activity

6 Jun 2021, 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).

6 Jun 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: MEF2C were changed from Mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations, MIM# 613443 to Mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations, MIM# 613443; MONDO:0013266

6 Jun 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: MEF2C were changed from to Mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations, MIM# 613443

6 Jun 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: MEF2C were set to

6 Jun 2021, Gel status: 3

Added Tag, Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag SV/CNV tag was added to gene: MEF2C. Tag 5'UTR tag was added to gene: MEF2C.

6 Jun 2021, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: MEF2C was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: MEF2C was added gene: MEF2C was added to Angelman Rett like syndromes_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: MEF2C was set to Unknown