Associated disorders

The GABRG2 gene is associated with autosomal dominant childhood-absence epilepsy (CAE) (MedGen UID: 334707), generalized epilepsy with febrile seizures plus, and familial febrile seizures (MedGen UID: 370755).

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Pathogenic variants in the GABRG2 gene are a rare cause of clinical cases of generalized epilepsy with febrile seizures plus and idiopathic generalized epilepsy.

The GABRG2 gene encodes a subunit of the gamma-aminobutyric receptor type A (GABAA), a ligand-gated chloride channel that mediates major inhibitory functions in the central nervous system. Ligand-gated chloride channels allow chloride ions to move across a membrane into the cell after binding to a ligand, blocking neuron firing (hyperpolarization). Its ligand, GABA, is the major inhibitory neurotransmitter in the central nervous system responsible for modulating signaling in the brain.

Assay and technical information

Invitae is a College of American Pathologists (CAP)-accredited and Clinical Laboratory Improvement Amendments (CLIA)-certified clinical diagnostic laboratory performing full-gene sequencing and deletion/duplication analysis using next-generation sequencing technology (NGS).

Our sequence analysis covers clinically important regions of each gene, including coding exons, +/- 10 base pairs of adjacent intronic sequence, and select noncoding variants. Our assay provides a Q30 quality-adjusted mean coverage depth of 350x (50x minimum, or supplemented with additional analysis). Variants classified as pathogenic or likely pathogenic are confirmed with orthogonal methods, except individual variants that have high quality scores and previously validated in at least ten unrelated samples.

Our analysis detects most intragenic deletions and duplications at single exon resolution. However, in rare situations, single-exon copy number events may not be analyzed due to inherent sequence properties or isolated reduction in data quality. If you are requesting the detection of a specific single-exon copy number variation, please contact Client Services before placing your order.

Gene Transcript reference Sequencing analysis Deletion/Duplication analysis
GABRG2 NM_000816.3