Leukodystrophy - paediatric
Gene: MEF2CEnsemblGeneIds (GRCh38): ENSG00000081189
EnsemblGeneIds (GRCh37): ENSG00000081189
OMIM: 600662, Gene2Phenotype
MEF2C is in 10 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Delayed myelination and periventricular white matter hyperintensities reported in this syndrome.
Sources: Expert listCreated: 15 Sep 2020, 10:22 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations, MIM# 613443
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Expert list
- Phenotypes
-
- Mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations, MIM# 613443
- OMIM
- 600662
- Clinvar variants
- Variants in MEF2C
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: mef2c has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: mef2c has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: MEF2C was added gene: MEF2C was added to Leukodystrophy - paediatric. Sources: Expert list Mode of inheritance for gene: MEF2C was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: MEF2C were set to 27255693; 20333642 Phenotypes for gene: MEF2C were set to Mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations, MIM# 613443 Review for gene: MEF2C was set to GREEN