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TEP1

Synonyms
TLP1, TP1, TROVE1, VAULT2, p240
External resources
Summary
This gene product is a component of the ribonucleoprotein complex responsible for telomerase activity which catalyzes the addition of new telomeres on the chromosome ends. The telomerase-associated proteins are conserved from ciliates to humans. Alternative splicing results in multiple transcript variants.

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
91
Likely pathogenic
0
VUS
15,566
Likely benign
5,206
Benign
0

Patient Phenotypes

Proportions of phenotypes among 91 patients carrying pathogenic or likely pathogenic variants on TEP1 gene are displayed below. The following symptoms were found in patients with a variant in TEP1. However, patients may have been diagnosed with a different variant.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
44%
Abnormality of the eye
28.6%
Abnormality of head or neck
26.4%
Abnormality of the musculoskeletal system
25.3%
Abnormality of the cardiovascular system
16.5%
Growth abnormality
16.5%
Abnormality of limbs
13.2%
Abnormality of the ear
13.2%
Abnormality of the genitourinary system
12.1%
Abnormality of the integument
9.9%
Abnormality of the immune system
7.7%
Abnormality of blood and blood forming tissues
6.6%
Abnormality of metabolism homeostasis
6.6%
Abnormality of the digestive system
4.4%
Abnormality of the endocrine system
4.4%
Abnormality of the respiratory system
4.4%
Neoplasm
4.4%
Abnormality of prenatal development or birth
3.3%
Abnormality of the breast
2.2%
Constitutional symptom
1.1%
Abnormal cellular phenotype
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%

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