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DCT

Synonyms
OCA8, TRP-2, TYRP2
External resources
Summary
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Variant counts

The variants found in rare patients tested by 3billion are classified and counted according to ACMG guidelines. The variants with over 5% variant frequency in population genome databases ( gnomAD, dbSNP, etc) are excluded.

Pathogenic
65
Likely pathogenic
11
VUS
2,008
Likely benign
616
Benign
0

Patient phenotypes

Proportions of phenotypes among 75 patients carrying pathogenic or likely pathogenic variants on DCT gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
42.7%
Abnormality of the musculoskeletal system
30.7%
Abnormality of the cardiovascular system
21.3%
Abnormality of head or neck
20%
Abnormality of the genitourinary system
20%
Abnormality of the ear
18.7%
Abnormality of the eye
17.3%
Growth abnormality
14.7%
Abnormality of limbs
13.3%
Abnormality of the integument
12%
Abnormality of prenatal development or birth
9.3%
Abnormality of the digestive system
8%
Abnormality of blood and blood-forming tissues
6.7%
Abnormality of the endocrine system
4%
Abnormality of the immune system
4%
Abnormality of the respiratory system
4%
Constitutional symptom
4%
Neoplasm
2.7%
Abnormal cellular phenotype
0%
Abnormality of metabolism homeostasis
0%
Abnormality of the breast
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%

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