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Epileptic encephalopathy

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

5 reviews

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
  • Expert Review Green
Phenotypes
  • EPILEPTIC ENCEPHALOPATHY
  • Rett syndrome
Tags
de novo
OMIM
607340
Clinvar variants
Variants in GABBR2
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

11 Dec 2017, Gel status: 3

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

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

8 Dec 2017, Gel status: 2

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for GABBR2 were set to EPILEPTIC ENCEPHALOPATHY; Rett syndrome

8 Dec 2017, Gel status: 2

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for GABBR2 were set to EuroEPINOMICS-RES Consortium (2014) AJHG 95:1-11; 29100083; 28061363; 28135719; 28135719; 28856709

8 Dec 2017, Gel status: 2

Set mode of inheritance

Ellen McDonagh (Genomics England Curator)

Mode of inheritance for GABBR2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

8 Dec 2017, Gel status: 2

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Amber List (Moderate Evidence).

13 Nov 2015, Gel status: 1

gel status update

GEL ()

The Gel status was updated for this whole panel

13 Nov 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

GABBR2 was added to Epileptic encephalopathypanel. Source: Expert Review Red

13 Nov 2015, Gel status: 0

gel status update

GEL ()

The Gel status was updated for this whole panel

12 Nov 2015, Gel status: 0

Approved Gene

Ellen McDonagh (Genomics England Curator)

This proposed gene was validated and added to this panel

12 Nov 2015, Gel status: 0

Added New Source

Richard Scott (North Thames GMC/UCL)

GABBR2 was added to Epileptic encephalopathypanel. Sources: Expert Review

12 Nov 2015, Gel status: 0

Created

Richard Scott (North Thames GMC/UCL)

GABBR2 was created by Reviewer_03