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TCF7

Synonyms
TCF-1
External resources
Summary
This gene encodes a member of the T-cell factor/lymphoid enhancer-binding factor family of high mobility group (HMG) box transcriptional activators. This gene is expressed predominantly in T-cells and plays a critical role in natural killer cell and innate lymphoid cell development. The encoded protein forms a complex with beta-catenin and activates transcription through a Wnt/beta-catenin signaling pathway. Mice with a knockout of this gene are viable and fertile, but display a block in T-lymphocyte differentiation. Alternative splicing results in multiple transcript variants. Naturally-occurring isoforms lacking the N-terminal beta-catenin interaction domain may act as dominant negative regulators of Wnt signaling.

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
29
Likely pathogenic
0
VUS
1,444
Likely benign
52
Benign
0

Patient phenotypes

Proportions of phenotypes among 29 patients carring pathogenic or likely pathogenic variants on TCF7 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
41.4%
Abnormality of the musculoskeletal system
34.5%
Abnormality of head or neck
31%
Abnormality of the cardiovascular system
31%
Abnormality of the eye
20.7%
Growth abnormality
17.2%
Abnormality of the digestive system
13.8%
Abnormality of the endocrine system
10.3%
Abnormality of the genitourinary system
10.3%
Abnormality of limbs
6.9%
Abnormality of the ear
6.9%
Abnormality of the respiratory system
6.9%
Abnormality of prenatal development or birth
3.4%
Abnormality of the immune system
3.4%
Abnormality of the integument
3.4%
Neoplasm
3.4%
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 thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%

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