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Intellectual disability

Gene: GABRB2

Green List (high evidence)
GABRB2 (gamma-aminobutyric acid type A receptor beta2 subunit)
EnsemblGeneIds (GRCh38): ENSG00000145864
EnsemblGeneIds (GRCh37): ENSG00000145864
OMIM: 600232, Gene2Phenotype
GABRB2 is in 4 panels

2 reviews

Louise Daugherty (Genomics England Curator)

New gene added by external expert and reviewed by curation team. Appropriate phenotype, sufficient cases, and external review comment all support gene-disease association and to rate this gene as Green
Created: 22 Nov 2018, 12:43 p.m.
Comment on phenotypes: Added phenotypes suggested from expert review that indicate relevance to inclusion on the Intellectual disability panel
Created: 22 Nov 2018, 10:49 a.m.
Created: 22 Nov 2018, 10:49 a.m.

Panel version: 2.555

Konstantinos Varvagiannis (Other)

I don't know

PMID 25124326 reported a 12-year old girl with intellectual disability and epilepsy due to a de novo missense variant in GABRB2. A further patient with early myoclonic encephalopathy and severe psycomotor delay, due to a de novo heterozygous missense mutation is reported in PMID 27789573.

Three individuals (DDD4K.03101, DDD4K.01472, DDD4K.02591) with de novo missense variants in GABRB2 have been reported in the DDD study (PMID 28135719).

PMID 29100083 identified 3 individuals with developmental and epileptic encephalopathy (characterized by the co-occurrence of epilepsy and intellectual disability) with de novo missense variants in GABRB2. Two of these subjects carried the same de novo mutation.
Created: 12 Aug 2018, 12:09 a.m.

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

Phenotypes
intellectual disability

Publications

Created: 12 Aug 2018, 12:09 a.m.

Panel version: 2.361

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
Phenotypes
  • Epileptic encephalopathy, infantile or early childhood, 2, 617829
  • intellectual disability
OMIM
600232
Clinvar variants
Variants in GABRB2
Penetrance
unknown
Publications
Panels with this gene

History Filter Activity

22 Nov 2018, Gel status: 3

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

Gene: gabrb2 has been classified as Green List (High Evidence).

22 Nov 2018, Gel status: 0

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for gene: GABRB2 were changed from intellectual disability to Epileptic encephalopathy, infantile or early childhood, 2, 617829; intellectual disability

12 Aug 2018, Gel status: 0

Added New Source

Konstantinos Varvagiannis (Other)

GABRB2 was added to Intellectual disability panel. Sources: Literature

12 Aug 2018, Gel status: 0

Created

Konstantinos Varvagiannis (Other)

GABRB2 was created by Konstantinos Varvagiannis