GENE REFERENCE / HGNC:26594

DOK7

docking protein 7

protein-coding gene4p16.3Gene information

What does this gene do?

The DOK7 gene provides instructions for making a protein that helps form connections between nerve cells and muscle cells at the neuromuscular junction. The neuromuscular junction is the area between nerve cells and muscle cells where signals are passed on to trigger muscle movement.

The Dok-7 protein participates in turning on (activating) a protein called MuSK that helps organize the various proteins that are important for developing and maintaining the neuromuscular junction. In particular, MuSK is involved in gathering a protein called the acetylcholine receptor (AChR) on the surface of the muscle cells at the neuromuscular junction. The AChR protein is critical for signaling between nerve and muscle cells.

Source: MedlinePlus, National Library of Medicine. Source publication: 2026-02-13. Source review: 2026-02.

ClinGen reviews

ClinGen reviews the evidence linking a particular gene to a condition. Each rating below describes the strength of that link. It does not classify a variant in your DNA file.

Condition	Inheritance	Evidence
congenital myasthenic syndrome 10MONDO:0009690 · Evaluated 2025-02-24	Autosomal recessive	DefinitiveCongenital Myopathies and Myasthenic Syndromes Gene Curation Expert Panel

ClinVar records

These numbers show what has been submitted to ClinVar. They cannot tell you how likely you are to have a condition.

Submitted alleles: 1,500
Submissions for variants in or overlapping this gene: 2,481
Submissions explicitly reporting this gene: 2,327
Alleles reported pathogenic / likely pathogenic: 161
VariationIDs with uncertain significance: 428
VariationIDs with conflicting classifications: 66

The rows count different things: alleles, submissions or VariationIDs. Their categories can overlap, so do not add them together. Pathogenic/likely pathogenic counts exclude structural variants that merely overlap a gene. A dash in the source means “not reported,” not zero.

NCBI produces the gene-summary file each week using counts recorded at the start of the month. The numbers may differ from those on the live ClinVar website. Read the field definitions ↗

View this gene in ClinVar ↗

YOUR DNA FILE

Can your DNA file tell you about DOK7?

From a DNA test kit (such as 23andMe, AncestryDNA or MyHeritage). These kits check a fixed list of about 600,000 to 700,000 positions across your whole genome. ClinVar lists 161 alleles in DOK7 reported as pathogenic or likely pathogenic. A kit checks only some of these positions, and often none of them.

From whole genome sequencing (a VCF file). Sequencing reads most of your genome. Your file lists the places where your DNA differs from the reference genome. Some regions are hard to sequence, including parts of some genes that have near-identical copies elsewhere, and a VCF file does not record which positions were read well.

If a variant is not in your file, that does not mean you don’t have it.

What BioDecode checks

BioDecode compares every variant in your file with ClinVar, on your own computer. For each match, it shows the ClinVar classification, the review status and the condition it was reported for. Your file is not uploaded.

A ClinVar classification applies to one particular variant and the condition it was reported for. It does not tell you about other variants in DOK7.

BioDecode cannot fill gaps in your test, diagnose a condition or replace clinical testing.

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