Congenital Heart Defect
Gene: MEF2C

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)

Red List (low evidence)

Two families described and an animal model. This is very low level of evidence considering the prevalence of CHD.
Sources: Expert list
Created: 11 Jan 2020, 7:37 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Congenital heart disease

Publications

Created: 11 Jan 2020, 7:37 a.m.

Panel version: 0.4

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Expert Review Red
Expert list

Phenotypes

Congenital heart disease

OMIM

600662

Clinvar variants

Variants in MEF2C

Penetrance

None

Publications

Panels with this gene

History Filter Activity

11 Jan 2020, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: mef2c has been classified as Red List (Low Evidence).

11 Jan 2020, Gel status: 1

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