HOKPP; HYPP; MiRP2
The KCNE3 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant Brugada syndrome (BrS) (MedGen UID: 413473) and atrial fibrillation (PMID: 18209471).
Order this gene as a single gene test.
Invitae tests that include this gene:
Pathogenic KCNE3 variants are associated with an unknown percentage of clinical cases of BrS and atrial fibrillation
The KCNE3 gene encodes the protein Isk-related family member 3, a beta subunit of the potassium voltage-gated channel. This protein is present in both cardiac and skeletal muscle. The electrical activity of muscle is controlled by the movement of potassium, sodium, and calcium ions across the cardiac muscle cells. Pathogenic variants in genes that encode potassium channels or subunits are a common cause of inherited cardiac arrhythmias.
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 in the transcript listed below. In addition, analysis covers the select non-coding variants specifically defined in the table below. Any variants that fall outside these regions are not analyzed. Any specific limitations in the analysis of these genes are also listed in the table below.
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|