Epileptic encephalopathy
Gene: MEF2CEnsemblGeneIds (GRCh38): ENSG00000081189
EnsemblGeneIds (GRCh37): ENSG00000081189
OMIM: 600662, Gene2Phenotype
MEF2C is in 7 panels
5 reviews
Amy McTague (UCL Institute of Child Health)
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Mental retardation, autosomal dominant 20
Publications
- Le Meur et al (2008) J Med Genet 47: 22-29
Variants in this GENE are reported as part of current diagnostic practice
Natalie Trump (NHS - Great Ormond Street Hospital)
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Mental retardation, autosomal dominant 20
Publications
- Le Meur et al (2008) J Med Genet 47: 22-29
Variants in this GENE are reported as part of current diagnostic practice
Manju Kurian (UCL-Institute of Child Health)
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Mental retardation, autosomal dominant 20
Publications
- Le Meur et al (2008) J Med Genet 47: 22-29
Variants in this GENE are reported as part of current diagnostic practice
Richard Scott (North Thames GMC/UCL)
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Mental retardation, autosomal dominant 20
Publications
- Le Meur et al (2008) J Med Genet 47: 22-29
Variants in this GENE are reported as part of current diagnostic practice
Ellen McDonagh (Genomics England Curator)
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.
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Expert
- UKGTN
- Phenotypes
-
- Mental retardation, autosomal dominant 20
- MENTAL RETARDATION-STEREOTYPIC MOVEMENTS-EPILEPSY AND/OR CEREBRAL MALFORMATIONS
- Mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations
- OMIM
- 600662
- Clinvar variants
- Variants in MEF2C
- Penetrance
- Complete
- Publications
-
- Le Meur et al (2008) J Med Genet 47: 22-29
- Panels with this gene
History Filter Activity
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Phenotypes
Ellen McDonagh (Genomics England Curator)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
Set publications
Ellen McDonagh (Genomics England Curator)Publications for MEF2C were set to Le Meur et al (2008) J Med Genet 47: 22-29
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Mode of inheritance for MEF2C was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
gel status update
GEL ()The Gel status was updated for this whole panel
Added New Source
Ellen McDonagh (Genomics England Curator)MEF2C was added to Epileptic encephalopathypanel. Source: Expert Review Green
gel status update
GEL ()The Gel status was updated for this whole panel
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene MEF2C was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added New Source
Ellen McDonagh (Genomics England Curator)MEF2C was added to Epileptic encephalopathypanel. Sources: UKGTN,Expert
Added New Source
Ellen McDonagh (Genomics England Curator)MEF2C was added to Epileptic encephalopathypanel. Sources: UKGTN,Expert