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Epileptic encephalopathy

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 4 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
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

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
  • Expert Review Green
  • Expert
Phenotypes
  • Epileptic encephalopathy, early infantile, 19
  • EPILEPTIC ENCEPHALOPATHY
OMIM
137160
Clinvar variants
Variants in GABRA1
Penetrance
Complete
Publications
  • Carvill et al (2014) Neurology 82: 1245-1253
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 GABRA1 were set to Epileptic encephalopathy, early infantile, 19; EPILEPTIC ENCEPHALOPATHY

5 Jan 2016, Gel status: 4

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for GABRA1 were set to Carvill et al (2014) Neurology 82: 1245-1253

5 Jan 2016, Gel status: 4

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Mode of inheritance for GABRA1 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

Added New Source

Ellen McDonagh (Genomics England Curator)

GABRA1 was added to Epileptic encephalopathypanel. Source: Expert Review Green

13 Nov 2015, Gel status: 0

gel status update

GEL ()

The Gel status was updated for this whole panel

1 Jul 2015, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

GABRA1 was added to Epileptic encephalopathypanel. Sources: Expert