Inherited white matter disorders
Gene: MEF2C
MEF2C (myocyte enhancer factor 2C)
EnsemblGeneIds (GRCh38): ENSG00000081189
EnsemblGeneIds (GRCh37): ENSG00000081189
OMIM: 600662, Gene2Phenotype
MEF2C is in 7 panels
EnsemblGeneIds (GRCh38): ENSG00000081189
EnsemblGeneIds (GRCh37): ENSG00000081189
OMIM: 600662, Gene2Phenotype
MEF2C is in 7 panels
1 review
Ellen McDonagh (Genomics England Curator)
Comment on list classification: Confirmed DD gene for MENTAL RETARDATION-STEREOTYPIC MOVEMENTS-EPILEPSY AND/OR CEREBRAL MALFORMATIONS, more than 3 cases in OMIM and found in 2/4 original sources of gene panels. Is not in the minimum recommended gene list for broad spectrum genetic testing for single-nucleotide variants associated with leukodystrophies and genetic leukoencephalopathies reported in PMID: 25655951 or on the Combined leukodystrophy/mitochondrial leukoencephalopathy 94-gene panel submitted to the UKGTN by Leeds Genetics Laboratory. Should be green if OMIM 613443 is considered as a white matter disorder (it does include White matter abnormalities according to the OMIM clinical synopsis).Created: 26 Aug 2016, 9:24 a.m.
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Green
- Emory Genetics Laboratory
- Illumina TruGenome Clinical Sequencing Services
- Phenotypes
-
- Mental Retardation, Stereotypic Movements, Epilepsy, and/or Cerebral Malformations
- OMIM
- 600662
- Clinvar variants
- Variants in MEF2C
- Penetrance
- Complete
- Panels with this gene
History Filter Activity
6 Oct 2016, Gel status: 4
panel promoted to version 1
Ellen McDonagh (Genomics England Curator)6th Oct 2016: Panel promoted to version 1 after expert review and input, further curation and clinical input.
6 Oct 2016, Gel status: 4
Gene classified by Genomics England curator
Ellen Thomas (Genomics England Curator)This gene has been classified as Green List (High Evidence).
6 Oct 2016, Gel status: 4
Gene classified by Genomics England curator
Ellen Thomas (Genomics England Curator)This gene has been classified as Green List (High Evidence).
26 Aug 2016, Gel status: 2
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Amber List (Moderate Evidence).
5 Apr 2016, Gel status: 2
Added New Source
Ellen McDonagh (Genomics England Curator)MEF2C was added to Inherited white matter disorderspanel. Source: Emory Genetics Laboratory
5 Apr 2016, Gel status: 0
Created
Ellen McDonagh (Genomics England Curator)MEF2C was created by ellenmcdonagh
5 Apr 2016, Gel status: 1
Added New Source
Ellen McDonagh (Genomics England Curator)MEF2C was added to Inherited white matter disorderspanel. Sources: Illumina TruGenome Clinical Sequencing Services