Associated disorders

The COLQ gene is associated with autosomal recessive congenital myasthenic syndrome 5 (CMS5) (MedGen UID: 400481).

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Invitae tests that include this gene:

Pathogenic variants in COLQ are estimated to cause between 10% and 15% of clinical cases of congenital myasthenic syndrome.

COLQ encodes a peptide with an N-terminal proline-rich domain, a central collagen-like domain, and a C-terminal cysteine-rich domain. The collagen-like domain permits formation of a triple helical tail structure while the N-terminal domain binds acetylcholinesterase catalytic subunits. Acetylcholinesterase hydrolyzes acetylcholine at the neuromuscular junction thus limiting the exposure of acetylcholine receptors to acetylcholine.

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
COLQ NM_005677.3