Associated disorders

The PRRT2 gene is associated with a spectrum of related autosomal dominant neurological conditions (MedGen UID: 358268) including episodic kinesigenic dyskinesia 1 (EKD1), benign familial infantile seizures 2 (BFIS2), and familial infantile convulsions with paroxysmal choreoathetosis (ICCA).

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Invitae tests that include this gene:

Pathogenic variants in the PRRT2 gene are associated with an unknown percentage of clinical cases of familial paroxysmal kinesigenic dyskinesia.

The PRRT2 gene provides instructions for making the proline-rich transmembrane protein 2 (PRRT2). The function of this protein is unknown, although it is thought to be involved in signaling in the brain. Studies show that it interacts with another protein called SNAP25, which is involved in signaling between nerve cells (neurons) in the brain. SNAP25 helps control the release of neurotransmitters, which are chemicals that relay signals from one neuron to another.

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
PRRT2 NM_145239.2