Genes in panel
STRs in panel
Prev Next

Genetic epilepsy syndromes

Gene: GABBR2

Green List (high evidence)

GABBR2 (gamma-aminobutyric acid type B receptor subunit 2)
EnsemblGeneIds (GRCh38): ENSG00000136928
EnsemblGeneIds (GRCh37): ENSG00000136928
OMIM: 607340, Gene2Phenotype
GABBR2 is in 4 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, not LOF variants - recurrent de novo variant known (Ala567Thr). 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, 59,617904; Neurodevelopmental disorder with poor language and loss of hand skills,617903; {Nicotine dependence, protection against},188890; {Nicotine dependence, susceptibility to},188890

Publications

Amy McTague (UCL Institute of Child Health)

Red List (low evidence)

Publications

  • EuroEPINOMICS-RES Consortium (2014) AJHG 95:1-11

Natalie Trump (NHS - Great Ormond Street Hospital)

Red List (low evidence)

Publications

  • EuroEPINOMICS-RES Consortium (2014) AJHG 95:1-11

Manju Kurian (UCL-Institute of Child Health)

Red List (low evidence)

Publications

  • EuroEPINOMICS-RES Consortium (2014) AJHG 95:1-11

Richard Scott (North Thames GMC/UCL)

Red List (low evidence)

Publications

  • EuroEPINOMICS-RES Consortium (2014) AJHG 95:1-11

Ellen McDonagh (Genomics England Curator)

Comment on list classification: Confirmed with Richard Scott (Genomics England Clinical Team) that this gene should be promoted to green.
Created: 11 Dec 2017, 9:56 a.m.
Comment on list classification: This is a Possible DD gene for Epileptic encephalopathy. No relevant diseases in OMIM. PMID: 29100083 - 1 patient with a de novo missense variant in this gene in the CENet Cohort is reported. He presented with severe global developmental delay and seizures, with profound intellectual deficiency. PMID: 28061363 - 2 individuals reported with de novo variants in this gene in an analysis by EuroEPINOMICS and Epi4K/EPGP of a large cohort of trios with epileptic encephalopathies, infantile spasms or Lennox Gastaut syndrome. Knock out mice experience spontaneous seizures and severe memory impairment. PMID: 26740508 - de novo missense variant in this gene and a homozygous variant in EIF4G1 were identified in this gene in a female patient with Rett syndrome including severe ID (without seizures). DDD project identified a de novo missense variants in 2 males and a female which were validated (PMID:28135719). PMID: 28856709 - the same de novo variant was identified in four unrelated patients with a Rett-like phenotype.
Created: 8 Dec 2017, 5:15 p.m.
Gene added in expert review of the panel by Richard Scott (Genomics England), Manju Kurian (UCL-Institute of Child Health), Natalie Trump (NHS - Great Ormond Street Hospital), Amy McTague (UCL Institute of Child Health).
Created: 12 Nov 2015, 4:02 p.m.

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Wessex and West Midlands GLH
  • NHS GMS
  • Expert Review Green
  • Expert Review
  • Expert Review Green
Phenotypes
  • EPILEPTIC ENCEPHALOPATHY
  • Rett syndrome
  • Epileptic encephalopathy, early infantile, 59, 617904
OMIM
607340
Clinvar variants
Variants in GABBR2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

29 Aug 2019, Gel status: 3

Set Phenotypes

Rebecca Foulger (Genomics England curator)

Phenotypes for gene: GABBR2 were changed from EPILEPTIC ENCEPHALOPATHY; Rett syndrome to EPILEPTIC ENCEPHALOPATHY; Rett syndrome; Epileptic encephalopathy, early infantile, 59, 617904

6 Aug 2019, Gel status: 3

Added New Source

Rebecca Foulger (Genomics England curator)

Source Wessex and West Midlands GLH was added to GABBR2.

6 Aug 2019, Gel status: 3

Added New Source

Rebecca Foulger (Genomics England curator)

Source NHS GMS was added to GABBR2.

11 Dec 2018, Gel status: 4

Panel promoted to version 1.0

Sarah Leigh (Genomics England Curator)

Ellen McDonagh: Gene added in expert review of

4 Apr 2018, Gel status: 4

Added New Source

Sarah Leigh (Genomics England Curator)

GABBR2 was added to Genetic Epilepsy Syndromes panel. Sources: Expert Review,Expert Review Green

4 Apr 2018, Gel status: 4

Created

Sarah Leigh (Genomics England Curator)

GABBR2 was created by Sarah Leigh