GABRB2

On this page, you will find information about a genetic change that was identified in a UDN participant.

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A change in this gene was identified in a female, age 12, with epileptic encephalopathy (read full description).

Date of Report

Jun 26, 2018

Full Name

gamma-aminobutyric acid type A receptor beta2 subunit

Location

Chromosome 5q34

Function

The GABRB2 gene is a member of the GABA-A receptor gene family. Members of this gene family are involved in the neurotransmission of GABA, a major neurotransmitter in the brain (Whiting et al., 1999).

Database Links

GeneCards: GABRB2

NCBI Gene: 2561

OMIM: 600232

UniProtKB/Swiss-Prot: P47870

Clinical Significance

The following change in this gene was identified in a UDN participant.

Gene GABRB2

Inheritance Pattern Autosomal dominant

Position (hg19) chr5:g.160758063C>T

Transcript NM_021911.2

DNA Change c.904G>A

Protein Change p.Val302Met

Foundations/Support Groups:

Scientific Publications:

De novo variants in neurodevelopmental disorders with epilepsy

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