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Genetic epilepsy syndromes

Gene: GABRA1

Green List (high evidence)

GABRA1 (gamma-aminobutyric acid type A receptor alpha1 subunit)
EnsemblGeneIds (GRCh38): ENSG00000022355
EnsemblGeneIds (GRCh37): ENSG00000022355
OMIM: 137160, Gene2Phenotype
GABRA1 is in 5 panels

8 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)

AD Early infantile epileptic encepalopathy. 3 unrelated cases - de novo heterozygous missense mutations identified in all. In vitro studies on 2 of these 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
Epileptic encephalopathy, early infantile, 19,615744; {Epilepsy, childhood absence, susceptibility to, 4},611136; {Epilepsy, juvenile myoclonic, susceptibility to, 5},611136

Publications

Amy McTague (UCL Institute of Child Health)

Green List (high evidence)

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

Phenotypes
Epileptic encephalopathy, early infantile, 19

Publications

  • Carvill et al (2014) Neurology 82: 1245-1253

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
Epileptic encephalopathy, early infantile, 19

Publications

  • Carvill et al (2014) Neurology 82: 1245-1253

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
Epileptic encephalopathy, early infantile, 19

Publications

  • Carvill et al (2014) Neurology 82: 1245-1253

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
Epileptic encephalopathy, early infantile, 19

Publications

  • Carvill et al (2014) Neurology 82: 1245-1253

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

Richard Scott (Genomics England Curator)

Comment when marking as ready: Ok
Created: 8 May 2016, 7:02 p.m.

Ellen McDonagh (Genomics England Curator)

Comment when marking as ready: All reviews agree this gene should be green. It has probable DD gene status.
Created: 5 Jan 2016, 11:54 a.m.
Comment on mode of inheritance: Checked the imprinted gene list.
Created: 5 Jan 2016, 11:53 a.m.

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • NIHRBR-RD Consortium SPEED_v3.0_20170404
  • Victorian Clinical Genetics Services
  • Expert
  • Expert Review Green
Phenotypes
  • {Epilepsy, childhood absence, susceptibility to, 4} 611136
  • {Epilepsy, juvenile myoclonic, susceptibility to, 5} 611136
OMIM
137160
Clinvar variants
Variants in GABRA1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

19 Sep 2019, Gel status: 3

Set publications

Rebecca Foulger (Genomics England curator)

Publications for gene: GABRA1 were set to 24623842; 11992121; 21714819; 16718694

6 Aug 2019, Gel status: 3

Added New Source

Rebecca Foulger (Genomics England curator)

Source Wessex and West Midlands GLH was added to GABRA1.

6 Aug 2019, Gel status: 3

Added New Source

Rebecca Foulger (Genomics England curator)

Source NHS GMS was added to GABRA1.

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 GABRA1. 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 GABRA1. Panel: Genetic Epilepsy Syndromes

4 Apr 2018, Gel status: 4

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for GABRA1 were set to {Epilepsy, childhood absence, susceptibility to, 4} 611136; {Epilepsy, juvenile myoclonic, susceptibility to, 5} 611136

4 Apr 2018, Gel status: 4

Set publications

Sarah Leigh (Genomics England Curator)

Publications for GABRA1 were set to 24623842; 11992121; 21714819; 16718694

4 Apr 2018, Gel status: 4

Added New Source

Sarah Leigh (Genomics England Curator)

GABRA1 was added to Genetic Epilepsy Syndromes panel. Sources: Expert Review Green,Expert

4 Apr 2018, Gel status: 4

Created

Sarah Leigh (Genomics England Curator)

GABRA1 was created by Sarah Leigh