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TNFRSF18

Synonyms
AITR, CD357, ENERGEN, GITR, GITR-D
External resources
Summary
This gene encodes a member of the TNF-receptor superfamily. The encoded receptor has been shown to have increased expression upon T-cell activation, and it is thought to play a key role in dominant immunological self-tolerance maintained by CD25(+)CD4(+) regulatory T cells. Knockout studies in mice also suggest the role of this receptor is in the regulation of CD3-driven T-cell activation and programmed cell death. Three alternatively spliced transcript variants of this gene encoding distinct isoforms have been reported.

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
16
Likely pathogenic
0
VUS
2,283
Likely benign
663
Benign
0

Patient phenotypes

Proportions of phenotypes among 16 patients carring pathogenic or likely pathogenic variants on TNFRSF18 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the eye
43.8%
Abnormality of the nervous system
43.8%
Abnormality of the musculoskeletal system
37.5%
Abnormality of head or neck
31.3%
Abnormality of the integument
25%
Growth abnormality
18.8%
Abnormality of limbs
12.5%
Abnormality of the cardiovascular system
12.5%
Abnormality of the ear
12.5%
Abnormality of prenatal development or birth
6.3%
Abnormality of the digestive system
6.3%
Abnormality of the endocrine system
6.3%
Abnormality of the genitourinary system
6.3%
Abnormal cellular phenotype
0%
Abnormality of blood and blood-forming tissues
0%
Abnormality of metabolism homeostasis
0%
Abnormality of the breast
0%
Abnormality of the immune system
0%
Abnormality of the respiratory system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%
Neoplasm
0%

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