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CD3G

Synonyms
CD3-GAMMA, IMD17, T3G
External resources
Summary
The protein encoded by this gene is the CD3-gamma polypeptide, which together with CD3-epsilon, -delta and -zeta, and the T-cell receptor alpha/beta and gamma/delta heterodimers, forms the T-cell receptor-CD3 complex. This complex plays an important role in coupling antigen recognition to several intracellular signal-transduction pathways. The genes encoding the epsilon, gamma and delta polypeptides are located in the same cluster on chromosome 11. Defects in this gene are associated with T cell immunodeficiency.

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
17
Likely pathogenic
0
VUS
592
Likely benign
209
Benign
6

Patient phenotypes

Proportions of phenotypes among 15 patients carring pathogenic or likely pathogenic variants on CD3G gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the musculoskeletal system
40%
Abnormality of the ear
26.7%
Abnormality of the nervous system
20%
Abnormality of the cardiovascular system
13.3%
Abnormality of the eye
13.3%
Abnormality of the genitourinary system
13.3%
Abnormality of the immune system
13.3%
Abnormal cellular phenotype
6.7%
Abnormality of blood and blood-forming tissues
6.7%
Abnormality of head or neck
6.7%
Abnormality of limbs
6.7%
Abnormality of the respiratory system
6.7%
Constitutional symptom
6.7%
Growth abnormality
6.7%
Abnormality of metabolism homeostasis
0%
Abnormality of prenatal development or birth
0%
Abnormality of the breast
0%
Abnormality of the digestive system
0%
Abnormality of the endocrine system
0%
Abnormality of the integument
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Neoplasm
0%

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