The KCNJ2 gene is associated with autosomal dominant Andersen-Tawil syndrome, also known as long QT syndrome (LQTS), type 7 (MedGen UID: 327586), short QT syndrome (SQTS) (MedGen UID: 400662), and catecholaminergic polymorphic ventricular tachycardia (CPVT) (PMID: 22589293). Additionally, the KCNJ2 gene has preliminary evidence supporting a correlation with autosomal dominant atrial fibrillation (MedGen UID: 462781).
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Invitae tests that include this gene:
Pathogenic KCNJ2 variants are associated with ~60% of clinical cases of Andersen-Tawil syndrome, a subtype of LQTS. Overall, KCNJ2 is associated with an unknown percentage of clinical cases of LQTS. KCNJ2 is also a rare cause of SQTS and causes an unknown percentage of CPVT and atrial fibrillation cases.
The KCNJ2 gene encodes the potassium inwardly-rectifying channel, subfamily J, member 2. 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, 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|