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TMPRSS15

Synonyms
ENTK, PRSS7
External resources
Summary
This gene encodes an enzyme that converts the pancreatic proenzyme trypsinogen to trypsin, which activates other proenzymes including chymotrypsinogen and procarboxypeptidases. The precursor protein is cleaved into two chains that form a heterodimer linked by a disulfide bond. This protein is a member of the trypsin family of peptidases. Mutations in this gene cause enterokinase deficiency, a malabsorption disorder characterized by diarrhea and failure to thrive.

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
41
Likely pathogenic
0
VUS
9,671
Likely benign
5,262
Benign
389

Patient phenotypes

Proportions of phenotypes among 39 patients carrying pathogenic or likely pathogenic variants on TMPRSS15 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the musculoskeletal system
28.2%
Abnormality of the nervous system
28.2%
Abnormality of the cardiovascular system
25.6%
Abnormality of the ear
25.6%
Abnormality of head or neck
23.1%
Abnormality of the eye
20.5%
Growth abnormality
20.5%
Abnormality of the digestive system
15.4%
Abnormality of the integument
15.4%
Abnormality of limbs
12.8%
Constitutional symptom
12.8%
Abnormality of the respiratory system
10.3%
Abnormality of prenatal development or birth
7.7%
Abnormality of the genitourinary system
7.7%
Abnormality of the immune system
7.7%
Abnormality of blood and blood-forming tissues
5.1%
Abnormality of the endocrine system
2.6%
Neoplasm
2.6%
Abnormal cellular phenotype
0%
Abnormality of metabolism homeostasis
0%
Abnormality of the breast
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%

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