Associated disorders

The DOK7 gene is associated with autosomal recessive congenital myasthenic syndrome 10 (CMS10) (MedGen UID: 376880) and fetal akinesia deformation sequence (FADS) (MedGen UID: 220903).

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DOK7: Analysis includes the intronic variant NM_001301071.1:c.54+14_+28delGGGGGGGGGGGGCGC.

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Invitae tests that include this gene:

Pathogenic variants in DOK7 are estimated to cause between 10% to 15% of clinical cases of congenital myasthenic syndrome.

DOK7 encodes the Downstream of tyrosine kinase-7 protein. DOK7 is expressed at the postsynaptic region of skeletal and heart muscle. DOK7 is involved with phosphorylation of MUSK, an essential step in neuromuscular synapse formation.

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
DOK7* NM_173660.4

*DOK7: Analysis includes the intronic variant NM_001301071.1:c.54+14_+28delGGGGGGGGGGGGCGC.