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Epileptic encephalopathy

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

5 reviews

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
  • Expert Review Green
  • Expert
  • UKGTN
Phenotypes
  • Epilepsy, childhood absence, susceptibility to, 5
  • EPILEPTIC ENCEPHALOPATHIES
OMIM
137192
Clinvar variants
Variants in GABRB3
Penetrance
Complete
Publications
  • Tanaka et al (2008) Am J Hum Genet 82: 1249_1261
Panels with this gene

History Filter Activity

5 Jan 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

5 Jan 2016, Gel status: 4

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for GABRB3 were set to Epilepsy, childhood absence, susceptibility to, 5; EPILEPTIC ENCEPHALOPATHIES

5 Jan 2016, Gel status: 4

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for GABRB3 were set to Epilepsy, childhood absence, susceptibility to, 5; EPILEPTIC ENCEPHALOPATHIES

5 Jan 2016, Gel status: 4

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for GABRB3 were set to Tanaka et al (2008) Am J Hum Genet 82: 1249_1261

5 Jan 2016, Gel status: 4

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Mode of inheritance for GABRB3 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

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

Upload gene information

Ellen McDonagh (Genomics England Curator)

GABRB3 was added to Epileptic encephalopathypanel. Sources: Expert Review Green

13 Nov 2015, Gel status: 4

Upload gene information

Ellen McDonagh (Genomics England Curator)

GABRB3 was added to Epileptic encephalopathypanel. Sources: Expert Review Green

13 Nov 2015, Gel status: 1

Upload gene information

Ellen McDonagh (Genomics England Curator)

GABRB3 was added to Epileptic encephalopathypanel. Sources: Expert Review Green

13 Nov 2015, Gel status: 1

gel status update

GEL ()

The Gel status was updated for this whole panel

1 Jul 2015, Gel status: 1

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene GABRB3 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

1 Jul 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

GABRB3 was added to Epileptic encephalopathypanel. Sources: UKGTN,Expert

1 Jul 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

GABRB3 was added to Epileptic encephalopathypanel. Sources: UKGTN,Expert