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Genetic epilepsy syndromes

Gene: GABRB3

Green List (high evidence)

GABRB3 (gamma-aminobutyric acid type A receptor beta3 subunit)
EnsemblGeneIds (GRCh38): ENSG00000166206
EnsemblGeneIds (GRCh37): ENSG00000166206
OMIM: 137192, Gene2Phenotype
GABRB3 is in 5 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)

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

Amy McTague (UCL Institute of Child Health)

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

Natalie Trump (NHS - Great Ormond Street Hospital)

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

Manju Kurian (UCL-Institute of Child Health)

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

Richard Scott (North Thames GMC/UCL)

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

Ellen McDonagh (Genomics England Curator)

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.

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
  • Expert
  • Expert Review Green
  • UKGTN
Phenotypes
  • Epilepsy, childhood absence, susceptibility to, 5
  • EPILEPTIC ENCEPHALOPATHIES
OMIM
137192
Clinvar variants
Variants in GABRB3
Penetrance
None
Publications
  • Tanaka et al (2008) Am J Hum Genet 82: 1249_1261
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 GABRB3.

6 Aug 2019, Gel status: 3

Added New Source

Rebecca Foulger (Genomics England curator)

Source NHS GMS was added to GABRB3.

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 GABRB3. 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 GABRB3. Panel: Genetic Epilepsy Syndromes

4 Apr 2018, Gel status: 4

Added New Source

Sarah Leigh (Genomics England Curator)

GABRB3 was added to Genetic Epilepsy Syndromes panel. Sources: UKGTN,Expert Review Green,Expert

4 Apr 2018, Gel status: 4

Created

Sarah Leigh (Genomics England Curator)

GABRB3 was created by Sarah Leigh