5; ISK; JLNS; JLNS2; LQT2; LQT5; MinK
The KCNE1 gene is associated with autosomal dominant long QT syndrome (LQTS) type 5 (MedGen UID: 358092) and autosomal recessive Jervell and Lange-Nielsen syndrome (JLNS) (MedGen UID: 394108).
Order this gene as a single gene test.
Invitae tests that include this gene:
Pathogenic KCNE1 variants are associated with 4% of clinical cases of Jervell and Lange-Nielsen syndrome, a subtype of LQTS. Overall, KCNE1 is a rare cause of LQTS.
The KCNE1 gene encodes the protein Isk-related family member 1, a subunit of the potassium voltage-gated channel. The electrical activity of cardiac muscle is controlled by the movement of potassium, sodium, and calcium ions across cardiac muscle cell membranes. Pathogenic variants in genes that encode potassium channels 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|