Inherited white matter disorders
Gene: MEF2CComment 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.
6th Oct 2016: Panel promoted to version 1 after expert review and input, further curation and clinical input.
This gene has been classified as Green List (High Evidence).
This gene has been classified as Green List (High Evidence).
This gene has been classified as Amber List (Moderate Evidence).
MEF2C was added to Inherited white matter disorderspanel. Source: Emory Genetics Laboratory
MEF2C was created by ellenmcdonagh
MEF2C was added to Inherited white matter disorderspanel. Sources: Illumina TruGenome Clinical Sequencing Services