Epileptic encephalopathy
Gene: MEF2C
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Mental retardation, autosomal dominant 20
Publications
Variants in this GENE are reported as part of current diagnostic practice
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Mental retardation, autosomal dominant 20
Publications
Variants in this GENE are reported as part of current diagnostic practice
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Mental retardation, autosomal dominant 20
Publications
Variants in this GENE are reported as part of current diagnostic practice
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Mental retardation, autosomal dominant 20
Publications
Variants in this GENE are reported as part of current diagnostic practice
Comment on phenotypes: Sourced from reviewers, G2P and OMIM.Created: 21 Jan 2016, 11:15 a.m.
Comment on mode of inheritance: Inheritance confirmed on G2P and OMIM, not on imprinted gene list.Created: 21 Jan 2016, 11:14 a.m.
This gene has been classified as Green List (High Evidence).
Phenotypes for MEF2C were set to Mental retardation, autosomal dominant 20; MENTAL RETARDATION-STEREOTYPIC MOVEMENTS-EPILEPSY AND/OR CEREBRAL MALFORMATIONS; Mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations
Publications for MEF2C were set to Le Meur et al (2008) J Med Genet 47: 22-29
Mode of inheritance for MEF2C was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
The Gel status was updated for this whole panel
MEF2C was added to Epileptic encephalopathypanel. Source: Expert Review Green
The Gel status was updated for this whole panel
Model of inheritance for gene MEF2C was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
MEF2C was added to Epileptic encephalopathypanel. Sources: UKGTN,Expert
MEF2C was added to Epileptic encephalopathypanel. Sources: UKGTN,Expert