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Genetic epilepsy syndromes

Gene: GABRD

Red List (low evidence)

GABRD (gamma-aminobutyric acid type A receptor delta subunit)
EnsemblGeneIds (GRCh38): ENSG00000187730
EnsemblGeneIds (GRCh37): ENSG00000187730
OMIM: 137163, Gene2Phenotype
GABRD is in 1 panel

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: Red.
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)

Red List (low evidence)

AD Epilepsy - paper by Dibbens et al 2004 one individual hom for R220H variant - daughter het. Lenzen et al 2005 disagreed with the findings.
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
{Epilepsy, generalized, with febrile seizures plus, type 5, susceptibility to}, 613060 ; {Epilepsy, idiopathic generalized, 10}, 613060 ; {Epilepsy, juvenile myoclonic, susceptibility to}, 613060

Publications

Deb Pal (King's College London)

Red List (low evidence)

Publications

Sarah Leigh (Genomics England Curator)

Comment on list classification: Associated with phenotype in OMIM and not in Gen2Phen. At least 2 variants identified in unrelated cases. The variant are associated with susceptibility to the phenotypes and c.659G>A polymorphism may also increase the duration of postictal period in Juvenile myoclonic epilepsy patients but may decrease the duration of seizure in Lennox-Gastaut syndrome patients (PMID 29785705).
Created: 21 Jun 2018, 10:16 a.m.

Amy McTague (UCL Institute of Child Health)

Red List (low evidence)

Natalie Trump (NHS - Great Ormond Street Hospital)

Red List (low evidence)

Manju Kurian (UCL-Institute of Child Health)

Red List (low evidence)

Richard Scott (North Thames GMC/UCL)

Red List (low evidence)

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • Expert
Phenotypes
  • {Epilepsy, idiopathic generalized, 10} 613060
  • {Epilepsy, juvenile myoclonic, susceptibility to} 613060
  • {Epilepsy, generalized, with febrile seizures plus, type 5, susceptibility to} 613060
OMIM
137163
Clinvar variants
Variants in GABRD
Penetrance
None
Publications
Panels with this gene

History Filter Activity

6 Aug 2019, Gel status: 1

Added New Source

Rebecca Foulger (Genomics England curator)

Source Wessex and West Midlands GLH was added to GABRD.

6 Aug 2019, Gel status: 1

Added New Source

Rebecca Foulger (Genomics England curator)

Source NHS GMS was added to GABRD.

11 Dec 2018, Gel status: 1

Panel promoted to version 1.0

Sarah Leigh (Genomics England Curator)

Sarah Leigh: Comment on list classification

26 Sep 2018, Gel status: 1

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

Gene: gabrd has been classified as Red List (Low Evidence).

21 Jun 2018, Gel status: 1

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

Gene: gabrd has been classified as Red List (Low Evidence).

21 Jun 2018, Gel status: 1

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: GABRD were set to 29785705

21 Jun 2018, Gel status: 1

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene: GABRD were set to {Epilepsy, idiopathic generalized, 10} 613060; {Epilepsy, juvenile myoclonic, susceptibility to} 613060; {Epilepsy, generalized, with febrile seizures plus, type 5, susceptibility to} 613060

21 Jun 2018, Gel status: 1

Set mode of inheritance

Sarah Leigh (Genomics England Curator)

Mode of inheritance for gene: GABRD was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

4 Apr 2018, Gel status: 1

Added New Source

Sarah Leigh (Genomics England Curator)

GABRD was added to Genetic Epilepsy Syndromes panel. Sources: Expert Review Red,Expert

4 Apr 2018, Gel status: 1

Created

Sarah Leigh (Genomics England Curator)

GABRD was created by Sarah Leigh