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Genetic epilepsy syndromes

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

7 reviews

Rebecca Foulger (Genomics England curator)

I don't know

Review and rating collated by Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust, 2019_02_06) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group, for Clinical Indication R59 'Early onset or syndromic epilepsy'. Review contributors: John Taylor and Helen Lord. Suggested gene rating: Green.
Created: 6 Aug 2019, 8:38 p.m. | Last Modified: 6 Aug 2019, 8:38 p.m.
Panel Version: 1.189

Tracy Lester (Genetics laboratory, Oxford UK)

Green List (high evidence)

AD mental retardation, stereotypic movements, epilepsy and/or cerebral malformations. Le Meur et al 2010 - de novo het mutation. Zweier et al, 2010 - 4 diff de novo het mutations -2 missense, 2 truncating- all had seizures. 2 additional patientsd with a simlar disorder had het deletions involving the MEF2C gene. Functional work showed that the 2 missense variants showed decreased levels of MECP2 mRNA and all except 2 patients had decreased levels of CDKL5 mRNA (genes assoc with Rett and Rett-like syndrome). See missense, nonesense a splicing variants as well as gross deletions on HGMD pro.
Created: 6 Aug 2019, 8:31 p.m. | Last Modified: 6 Aug 2019, 8:31 p.m.
Panel Version: 1.188

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
chromosome 5q14.3 deletion syndrome,613443; Mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations,613443

Publications

Amy McTague (UCL Institute of Child Health)

Green List (high evidence)

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)

Green List (high evidence)

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)

Green List (high evidence)

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)

Green List (high evidence)

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
  • Wessex and West Midlands GLH
  • NHS GMS
  • NIHRBR-RD Consortium SPEED_v3.0_20170404
  • Victorian Clinical Genetics Services
  • UKGTN
  • Expert
  • Expert Review Green
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
None
Publications
  • Le Meur et al (2008) J Med Genet 47: 22-29
Panels with this gene

History Filter Activity

6 Aug 2019, Gel status: 3

Added New Source

Rebecca Foulger (Genomics England curator)

Source Wessex and West Midlands GLH was added to MEF2C.

6 Aug 2019, Gel status: 3

Added New Source

Rebecca Foulger (Genomics England curator)

Source NHS GMS was added to MEF2C.

11 Dec 2018, Gel status: 4

Panel promoted to version 1.0

Sarah Leigh (Genomics England Curator)

Ellen McDonagh: Comment on mode of inheritance

26 Jun 2018, Gel status: 4

Added New Source

Sarah Leigh (Genomics England Curator)

NIHRBR-RD Consortium SPEED_v3.0_20170404 was added to MEF2C. Panel: Genetic Epilepsy Syndromes

25 Jun 2018, Gel status: 4

Added New Source

Sarah Leigh (Genomics England Curator)

Victorian Clinical Genetics Services was added to MEF2C. Panel: Genetic Epilepsy Syndromes

4 Apr 2018, Gel status: 4

Added New Source

Sarah Leigh (Genomics England Curator)

MEF2C was added to Genetic Epilepsy Syndromes panel. Sources: Expert Review Green,Expert,UKGTN

4 Apr 2018, Gel status: 4

Created

Sarah Leigh (Genomics England Curator)

MEF2C was created by Sarah Leigh