Home > Gene Browser > DOK7

DOK7

Synonyms
C4orf25, CMS10, CMS1B, FADS3
External resources
Summary
The protein encoded by this gene is essential for neuromuscular synaptogenesis. The protein functions in aneural activation of muscle-specific receptor kinase, which is required for postsynaptic differentiation, and in the subsequent clustering of the acetylcholine receptor in myotubes. This protein can also induce autophosphorylation of muscle-specific receptor kinase. Mutations in this gene are a cause of familial limb-girdle myasthenia autosomal recessive, which is also known as congenital myasthenic syndrome type 1B. Alternative splicing results in multiple transcript variants.

Variant counts

Variant classification counts according to ACMG guideline on all identified variants among our tested samples are listed. The variants with over 5% variant frequency in population genome databases ( gnomAD, dbSNP, etc) are excluded.

Pathogenic
13
Likely pathogenic
0
VUS
3,683
Likely benign
3,582
Benign
357

Patient phenotypes

Proportions of phenotypes among 13 patients carring pathogenic or likely pathogenic variants on DOK7 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the musculoskeletal system
61.5%
Abnormality of the nervous system
53.8%
Abnormality of head or neck
38.5%
Growth abnormality
38.5%
Abnormality of the eye
23.1%
Abnormality of limbs
15.4%
Abnormality of the ear
15.4%
Abnormality of blood and blood-forming tissues
7.7%
Abnormality of the cardiovascular system
7.7%
Abnormality of the digestive system
7.7%
Abnormality of the endocrine system
7.7%
Constitutional symptom
7.7%
Neoplasm
7.7%
Abnormal cellular phenotype
0%
Abnormality of metabolism homeostasis
0%
Abnormality of prenatal development or birth
0%
Abnormality of the breast
0%
Abnormality of the genitourinary system
0%
Abnormality of the immune system
0%
Abnormality of the integument
0%
Abnormality of the respiratory system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%

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