Associated disorders

The GRIN2B gene is associated with autosomal dominant early infantile epileptic encephalopathy (EIEE) (MedGen UID: 830511) and autosomal dominant mental retardation (MedGen UID: 462761).

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Pathogenic variants in GRIN2B are a rare cause of early infantile epileptic encephalopathy (EIEE).

Ligand-gated cation channels allow positively charged ions to move across a membrane into the cell after binding to a ligand, triggering neuron firing (depolarization). The GRIN2B gene encodes an N2B subunit of the ligand-gated NMDA receptor, which binds to the excitatory neurotransmitter glutamate.

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
GRIN2B NM_000834.3