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Intellectual disability

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 3 panels

6 reviews

Arina Puzriakova (Genomics England Curator)

Comment on publications: PMID: 39028675 was identified by the Genomics England Applied Machine Learning (ML) team in a Biocuration-ML project for identifying new gene-disease associations using Natural Language Processing (NLP) and Generative AI
Created: 20 Feb 2025, 3:44 p.m. | Last Modified: 20 Feb 2025, 3:44 p.m.
Panel Version: 8.96
Created: 20 Feb 2025, 3:44 p.m.
Last Modified: 20 Feb 2025, 3:44 p.m.
Panel version: 8.96

Rebecca Foulger (Genomics England curator)

Added missense tag: only missense variants (A707T and A567T) reported so far in the literature.
Created: 29 Aug 2019, 1:19 p.m. | Last Modified: 29 Aug 2019, 1:19 p.m.
Panel Version: 2.1021
Comment on list classification: Updated gene from Amber to Green: As noted by Konstantinos Varvagiannis, an additional 2018 study has been published associating a new GABBR2 variant (A707T) with a RETT-like phenotype including intellectual impairment (PMID:29369404). This adds to the previous papers documenting the recurring p.Ala567Thr variant in RETT-like patients from Portugal (PMID:26740508) and Korea (PMID:28856709). Plus OMIM has been updated since the Dec 2017 curation to include neurodevelopmental disorder MIM:617904. Thirdly, email correspondence from J. Evans notes a patient with a relevant phenotype and a previously-published pathogenic variant in GABBR2. Therefore sufficient unrelated cases to support a Green rating.
Created: 29 Aug 2019, 1:18 p.m. | Last Modified: 29 Aug 2019, 1:18 p.m.
Panel Version: 2.1021
PMID:29369404: Vuillaume et al., 2018 report de novo heterozygous variant A707T in a 12 year old girl with profound ID and no history of seizures. Functional studies showed the resulting protein had impaired signaling.
Created: 29 Aug 2019, 1:12 p.m. | Last Modified: 29 Aug 2019, 1:12 p.m.
Panel Version: 2.1020
Created: 29 Aug 2019, 1:12 p.m.
Last Modified: 29 Aug 2019, 1:12 p.m.
Panel version: 2.1021

Konstantinos Varvagiannis (Other)

I don't know

PMID 29369404 describes a 12 year-old girl with a de novo - previously unreported - missense variant and a Rett-like phenotype (intellectual disability, stereotypies, sleeping and breathing disorder but no seizures).
Created: 12 Aug 2018, 10:41 p.m.

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

Phenotypes
EPILEPTIC ENCEPHALOPATHY; Rett syndrome

Publications

Created: 12 Aug 2018, 10:41 p.m.

Panel version: 2.361

Ellen McDonagh (Genomics England Curator)

I don't know

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: 13 Dec 2017, 9:46 p.m.

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

Phenotypes
EPILEPTIC ENCEPHALOPATHY; Rett syndrome

Publications

Created: 13 Dec 2017, 9:46 p.m.

Panel version: Imported from Intellectual disability update Dec 2017 panel version 0.3

Caroline Wright (Sanger)

Red List (low evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
EPILEPTIC ENCEPHALOPATHY

Publications

Created: 5 Nov 2017, 2:42 a.m.

Panel version: 0

Lu Raymond (university of cambridge )

Red List (low evidence)

Created: 23 Feb 2016, 11:10 a.m.

Panel version: 0.306

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
Phenotypes
  • Developmental and epileptic encephalopathy 59, OMIM:617904
  • eurodevelopmental disorder with poor language and loss of hand skills, OMIM:617903
Tags
missense
OMIM
607340
Clinvar variants
Variants in GABBR2
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

20 Feb 2025, Gel status: 3

Set publications

Arina Puzriakova (Genomics England Curator)

Publications for gene: GABBR2 were set to 29100083; 28061363; 28135719; 28856709; 29369404; 29377213; 39028675

20 Feb 2025, Gel status: 3

Set publications

Arina Puzriakova (Genomics England Curator)

Publications for gene: GABBR2 were set to 29100083; 28061363; 28135719; 28856709; 29369404; 29377213

20 Feb 2025, Gel status: 3

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: GABBR2 were changed from EPILEPTIC ENCEPHALOPATHY; Rett syndrome; Neurodevelopmental disorder with poor language and loss of hand skills, 617903 to Developmental and epileptic encephalopathy 59, OMIM:617904; eurodevelopmental disorder with poor language and loss of hand skills, OMIM:617903

29 Aug 2019, Gel status: 3

Added Tag

Rebecca Foulger (Genomics England curator)

Tag missense tag was added to gene: GABBR2.

29 Aug 2019, Gel status: 3

Entity classified by Genomics England curator

Rebecca Foulger (Genomics England curator)

Gene: gabbr2 has been classified as Green List (High Evidence).

29 Aug 2019, Gel status: 2

Set Phenotypes

Rebecca Foulger (Genomics England curator)

Phenotypes for gene: GABBR2 were changed from EPILEPTIC ENCEPHALOPATHY; Rett syndrome to EPILEPTIC ENCEPHALOPATHY; Rett syndrome; Neurodevelopmental disorder with poor language and loss of hand skills, 617903

29 Aug 2019, Gel status: 2

Set publications

Rebecca Foulger (Genomics England curator)

Publications for gene: GABBR2 were set to 29100083; 28061363; 28135719; 28856709

12 Mar 2018, Gel status: 2

Panel promoted to version 2.0

Ellen McDonagh (Genomics England Curator)

12.03.2018: Due to major updates completed (Phase 1, 2 and 3), this panel was promoted to Version 2 in order to reflect the major updates since November 2017 which have resulted in reviews for 836 genes added by Genomics England Curators and the Clinical Team, 130 new Green genes added to the interpretation pipeline (from 751 to 881 Green genes), and the gene total has increased from 1879 to 1927.

5 Jan 2018, Gel status: 2

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

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

5 Jan 2018, Gel status: 1

Set mode of inheritance, Set publications

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene GABBR2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene GABBR2 was set to ['29100083', '28061363', '28135719', '28856709']

13 Nov 2015, Gel status: 1

gel status update

GEL ()

The Gel status was updated for this whole panel

13 Nov 2015, Gel status: 2

gel status update

GEL ()

The Gel status was updated for this whole panel

13 Nov 2015, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

GABBR2 was added to Intellectual disabilitypanel. Sources: Expert Review Red

13 Nov 2015, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

GABBR2 was created by ellenmcdonagh