Early onset or syndromic epilepsy

Gene: GABRB3

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)

Missense variants reported in association with epileptic encephalopathy. AD Early infantile epileptic encephalopathy & childhood absence epilepsy. Many cases reported - OMIM and 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
Epileptic encephalopathy, early infantile, 43,617113; {Epilepsy, childhood absence, susceptibility to, 5},612269

Publications

• 18514161
• 27476654

Green List (high evidence)

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

Phenotypes
Epilepsy, childhood absence, susceptibility to, 5

Publications

• Tanaka et al (2008) Am J Hum Genet 82: 1249_1261

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, childhood absence, susceptibility to, 5

Publications

• Tanaka et al (2008) Am J Hum Genet 82: 1249_1261

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, childhood absence, susceptibility to, 5

Publications

• Tanaka et al (2008) Am J Hum Genet 82: 1249_1261

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, childhood absence, susceptibility to, 5

Publications

• Tanaka et al (2008) Am J Hum Genet 82: 1249 1261

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

Comment when marking as ready: Confirmed DD gene, and all reviewers agree this should be green.

Created: 5 Jan 2016, 11:58 a.m.

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

Created: 5 Jan 2016, 11:58 a.m.

Comment on mode of inheritance: Checked the imprinted gene list. Monoallelic confirmed on G2P.

Created: 5 Jan 2016, 11:56 a.m.