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DOK6

Synonyms
DOK5L, HsT3226
External resources
Summary
DOK6 is a member of the DOK (see DOK1; MIM 602919) family of intracellular adaptors that play a role in the RET (MIM 164761) signaling cascade (Crowder et al., 2004

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
38
Likely pathogenic
0
VUS
4,736
Likely benign
225
Benign
0

Patient Phenotypes

Proportions of phenotypes among 17 patients carrying pathogenic or likely pathogenic variants on DOK6 gene are displayed below. The following symptoms were found in patients with a variant in DOK6. However, patients may have been diagnosed with a different variant.

Phenotype class
Patients in 3billion (%)
Abnormality of head or neck
23.5%
Abnormality of the genitourinary system
23.5%
Abnormality of the ear
17.6%
Abnormality of the musculoskeletal system
17.6%
Abnormality of limbs
11.8%
Abnormality of metabolism homeostasis
11.8%
Abnormality of the cardiovascular system
11.8%
Abnormality of the eye
11.8%
Abnormality of the nervous system
11.8%
Growth abnormality
11.8%
Abnormality of blood and blood forming tissues
5.9%
Abnormality of the digestive system
5.9%
Constitutional symptom
5.9%
Abnormal cellular phenotype
0%
Abnormality of prenatal development or birth
0%
Abnormality of the breast
0%
Abnormality of the endocrine 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%
Neoplasm
0%

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