Inherited white matter disorders

Gene: MEF2C

Green List (high evidence)

MEF2C (myocyte enhancer factor 2C)
EnsemblGeneIds (GRCh38): ENSG00000081189
EnsemblGeneIds (GRCh37): ENSG00000081189
OMIM: 600662, Gene2Phenotype
MEF2C is in 8 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