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Intellectual disability

Gene: MEF2C

Green List (high evidence)

MEF2C (myocyte enhancer factor 2C)
EnsemblGeneIds (GRCh38): ENSG00000081189
EnsemblGeneIds (GRCh37): ENSG00000081189
OMIM: 600662, Gene2Phenotype
MEF2C is in 9 panels

4 reviews

Caroline Wright (Sanger)

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Publications

Louise Daugherty (Genomics England Curator)

Comment on phenotypes: reformatted phenotypes
Created: 17 Aug 2017, 3:58 p.m.
Le Meur et al. (2010) describe six unrelated children with a deletion or mutation of the MEF2C gene (5q14). All six patients had a similar phenotype including severe intellectual disability, developmental delay, hypotonia, absent speech, and the inability to walk unaided. Variable features include stereotypic movements, epilepsy and/or cerebral malformations, and dysmorphic features. Mutation of the MEF2C gene causes autosomal dominant mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations
Created: 17 Aug 2017, 3:56 p.m.
Comment on publications: added publications as suggested by external reviewers
Created: 17 Aug 2017, 3:54 p.m.

BRIDGE consortium (NIHRBR-RD)

Green List (high evidence)

This is a pertinent gene from the NIHR BioResource - Rare Diseases Study (NIHRBR-RD) BRIDGE Study : SPEED (Specialist Pathology: Evaluating Exomes in Diagnostics) which covers epilepsies, movement and microcephaly disorders, this gene is on the SPEED_NEURO_20170705 gene list. Evidences used for SPEED NEURO gene list: in_ddg2p_20141118_conf;in_ddg2p_20141118_conf;in_ddg2p_201507;in_ddg2p_201507_conf;in_ddg2p_2_4_2017;in_ddg2p_2_4_2017_conf;in_gilissen_2014_known;in_omim_20150205_epilepsies . Main mutation mechanism : Loss of function
Created: 27 Jul 2017, 7:29 p.m.
Evidences key, gene present in following gene lists and main mutation mechanism : ddg2p_20141118; ddg2p_20141118_conf; ddg2p_201507; ddg2p_201507_conf; find_uk10k; gilissen_2014_known; omim_20150205_epilepsies; sfari_20150206; Nijmegen_ID_diagnostic; Nijmegen_ID_candidates; gonzalez_mantilla_2016; GEL_ID_green_20160217; neuro_20160418_strict; Loss of function. This is a pertinent gene from the BRIDGE Study : SPEED (Specialist Pathology: Evaluating Exomes in Diagnostics) which covers epilepsies, movement and microcephaly disorders, this gene comes from the SPEED_NEURO_v3.0_20170404 gene list. The following experts from the BRIDGE consortium NIHRBR-RD contributed to this panel: - Professor F. Lucy Raymond, Cambridge Institute for Medical Research, University of Cambridge - Manju Kurian, Paediatric neurologist, Great Ormond Street Hosptial - Keren Carss, NIHR BioResource - Rare Diseases, Cambridge University Hospitals NHS Foundation Trust - Alba Sanchis-Juan, NIHR BioResource - Rare Diseases, Cambridge University Hospitals NHS Foundation Trust - Marie Erwood NIHR BioResource - Rare Diseases, Cambridge University Hospitals NHS Foundation Trust - Louise Daugherty, NIHR BioResource - Rare Diseases, Cambridge University Hospitals NHS Foundation Trust
Created: 19 Jul 2017, 12:49 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Publications

Lu Raymond (university of cambridge )

Green List (high evidence)

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Emory Genetics Laboratory
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations, 613443
  • MRSME
  • Chromosome 5q14.3 deletion syndrome, 613443
OMIM
600662
Clinvar variants
Variants in MEF2C
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

29 Sep 2018, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

Source Victorian Clinical Genetics Services was added to MEF2C.

12 Mar 2018, Gel status: 3

Panel promoted to version 2.0

Ellen McDonagh (Genomics England Curator)

12.03.2018: Due to major updates completed (Phase 1, 2 and 3), this panel was promoted to Version 2 in order to reflect the major updates since November 2017 which have resulted in reviews for 836 genes added by Genomics England Curators and the Clinical Team, 130 new Green genes added to the interpretation pipeline (from 751 to 881 Green genes), and the gene total has increased from 1879 to 1927.

17 Aug 2017, Gel status: 4

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for MEF2C were set to Mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations, 613443; MRSME; Chromosome 5q14.3 deletion syndrome, 613443

17 Aug 2017, Gel status: 4

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for MEF2C were set to Mental Retardation, Stereotypic Movements, Epilepsy, and/orCerebral Malformations; Mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations, 613443; Chromosome 5q14.3 deletion syndrome, 613443; MENTAL RETARDATION-STEREOTYPIC MOVEMENTS-EPILEPSY AND/OR CEREBRAL MALFORMATIONS; MRSME

17 Aug 2017, Gel status: 4

Set publications

Louise Daugherty (Genomics England Curator)

Publications for MEF2C were set to 20513142; 19592390; 23001426; 25529582; 24896178

13 Nov 2015, Gel status: 4

gel status update

GEL ()

The Gel status was updated for this whole panel

13 Nov 2015, Gel status: 4

gel status update

GEL ()

The Gel status was updated for this whole panel

13 Nov 2015, Gel status: 3

Set Mode of Inheritance, Added New Source

Ellen McDonagh (Genomics England Curator)

MEF2C was added to Intellectual disabilitypanel. Source: Expert Review Green Model of inheritance for gene MEF2C was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

24 Jun 2015, Gel status: 3

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

24 Jun 2015, Gel status: 3

Added New Source

Ellen McDonagh (Genomics England Curator)

MEF2C was added to Intellectual disabilitypanel. Sources: Illumina TruGenome Clinical Sequencing Services,Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen

24 Jun 2015, Gel status: 2

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

24 Jun 2015, Gel status: 2

Added New Source

Ellen McDonagh (Genomics England Curator)

MEF2C was added to Intellectual disabilitypanel. Sources: Illumina TruGenome Clinical Sequencing Services,Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen

24 Jun 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

MEF2C was added to Intellectual disabilitypanel. Sources: Illumina TruGenome Clinical Sequencing Services,Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen