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TNC

Synonyms
150-225, DFNA56, GMEM, GP, HXB, JI, TN, TN-C
External resources
Summary
This gene encodes an extracellular matrix protein with a spatially and temporally restricted tissue distribution. This protein is homohexameric with disulfide-linked subunits, and contains multiple EGF-like and fibronectin type-III domains. It is implicated in guidance of migrating neurons as well as axons during development, synaptic plasticity, and neuronal regeneration.

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
19
Likely pathogenic
0
VUS
1,982
Likely benign
4,342
Benign
7,068

Patient phenotypes

Proportions of phenotypes among 14 patients carrying pathogenic or likely pathogenic variants on TNC gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
35.7%
Abnormality of the cardiovascular system
21.4%
Abnormality of the musculoskeletal system
21.4%
Abnormality of head or neck
14.3%
Abnormality of the ear
14.3%
Abnormality of the eye
14.3%
Abnormality of the integument
14.3%
Growth abnormality
14.3%
Abnormality of prenatal development or birth
7.1%
Abnormality of the digestive system
7.1%
Abnormality of the genitourinary system
7.1%
Abnormality of the immune system
7.1%
Abnormality of the respiratory system
7.1%
Abnormal cellular phenotype
0%
Abnormality of blood and blood-forming tissues
0%
Abnormality of limbs
0%
Abnormality of metabolism homeostasis
0%
Abnormality of the breast
0%
Abnormality of the endocrine system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%
Neoplasm
0%

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