GABRB1

Chr 4AD

gamma-aminobutyric acid type A receptor subunit beta1

Also known as: DEE45, EIEE45

NCBI Gene: 2560 ENSG00000163288 UniProt: P18505 OMIM: 137190

The beta 1 subunit of the GABA-A receptor forms part of a multisubunit chloride channel that mediates fast inhibitory synaptic transmission in the central nervous system. Autosomal dominant mutations cause developmental and epileptic encephalopathy 45 through a gain-of-function mechanism. The gene is highly intolerant to loss-of-function variants, indicating that haploinsufficiency is not the pathogenic mechanism for this condition.

OMIM ResearchSummary from RefSeq, OMIM, UniProt, Mechanism

The gamma-aminobutyric acid (GABA) A receptor is a multisubunit chloride channel that mediates the fastest inhibitory synaptic transmission in the central nervous system. This gene encodes GABA A receptor, beta 1 subunit. It is mapped to chromosome 4p12 in a cluster comprised of genes encoding alpha 4, alpha 2 and gamma 1 subunits of the GABA A receptor. Alteration of this gene is implicated in the pathogenetics of schizophrenia. [provided by RefSeq, Jul 2008]

OMIM ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

Developmental and epileptic encephalopathy 45MIM #617153

Clinical highlights

Gene-disease validity (ClinGen)

genetic developmental and epileptic encephalopathy · ADLimitednot for standalone diagnostic reporting

Interpreting a novel variant

This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

0.31

LOEUF· LoF intol.

Multiple*

Mechanism· predicted