Associated disorders

The KCNJ10 gene is associated with autosomal recessive SeSAME syndrome (MedGen UID: 411243).

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Pathogenic variants in the KCNJ10 gene are associated with ~100% of clinical cases of SeSAME / EAST syndrome.

Inwardly-rectifying potassium channels allow potassium ions to flow both into and out of the cell to keep excitatory cells at resting potential. The KCNJ10 gene encodes an inwardly-rectifying potassium channel that is predominantly expressed in glial cells, which buffer neuron firing. Channel activity is altered by binding to modified lipids in the cell membrane.

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
KCNJ10 NM_002241.4