Early onset or syndromic epilepsy

Gene: GRIN2A

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)

Landau-Kleffner syndrome (epilepsy-aphasia), AD - de novo or inherited mutations in multiple cases, LOF/missense, Many many cases reported and functional studes have been undertaken.

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
Epilepsy, focal, with speech disorder and with or without mental retardation,245570

Publications

• 20890276

Green List (high evidence)

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

Phenotypes
Epilepsy, focal, with speech disorder and with or without mental retardation

Publications

• Lesca et al (2013) Nature Genet 45(9) 1061-1068

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
Epilepsy, focal, with speech disorder and with or without mental retardation

Publications

• Lesca et al (2013) Nature Genet 45(9) 1061-1068

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
Epilepsy, focal, with speech disorder and with or without mental retardation

Publications

• Lesca et al (2013) Nature Genet 45(9) 1061-1068

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
Epilepsy, focal, with speech disorder and with or without mental retardation

Publications

• Lesca et al (2013) Nature Genet 45(9) 1061-1068

Variants in this GENE are reported as part of current diagnostic practice

Comment when marking as ready: All reviewers agree, confirmed DD gene for landau-kleffner syndrome and epilepsy with neurodevelopmental defects.

Created: 5 Jan 2016, 12:25 p.m.

Comment on phenotypes: Sources: reviewers, OMIM, G2P.

Created: 5 Jan 2016, 12:23 p.m.

Comment on mode of inheritance: Checked the imprinted gene list.

Created: 5 Jan 2016, 12:22 p.m.