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TG

Synonyms
AITD3, TGN
External resources
Summary
Thyroglobulin (Tg) is a glycoprotein homodimer produced predominantly by the thryroid gland. It acts as a substrate for the synthesis of thyroxine and triiodothyronine as well as the storage of the inactive forms of thyroid hormone and iodine. Thyroglobulin is secreted from the endoplasmic reticulum to its site of iodination, and subsequent thyroxine biosynthesis, in the follicular lumen. Mutations in this gene cause thyroid dyshormonogenesis, manifested as goiter, and are associated with moderate to severe congenital hypothyroidism. Polymorphisms in this gene are associated with susceptibility to autoimmune thyroid diseases (AITD) such as Graves disease and Hashimoto thryoiditis.

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
58
Likely pathogenic
0
VUS
27,975
Likely benign
19,351
Benign
130

Patient phenotypes

Proportions of phenotypes among 56 patients carrying pathogenic or likely pathogenic variants on TG gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
41.1%
Abnormality of the musculoskeletal system
30.4%
Abnormality of head or neck
23.2%
Abnormality of the cardiovascular system
21.4%
Abnormality of the eye
21.4%
Abnormality of limbs
17.9%
Abnormality of the ear
12.5%
Growth abnormality
12.5%
Neoplasm
10.7%
Abnormality of the endocrine system
8.9%
Abnormality of the genitourinary system
8.9%
Abnormality of blood and blood-forming tissues
7.1%
Abnormality of the digestive system
7.1%
Abnormality of the immune system
7.1%
Abnormality of the integument
7.1%
Abnormality of prenatal development or birth
3.6%
Abnormality of the respiratory system
1.8%
Abnormality of the voice
1.8%
Abnormal cellular phenotype
0%
Abnormality of metabolism homeostasis
0%
Abnormality of the breast
0%
Abnormality of the thoracic cavity
0%
Constitutional symptom
0%

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