Early onset or syndromic epilepsy

Gene: MEF2C

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

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

• 20513142

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

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

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

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

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.