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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

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
26
Likely pathogenic
0
VUS
4,458
Likely benign
3,001
Benign
119

Patient phenotypes

Proportions of phenotypes among 25 patients carring pathogenic or likely pathogenic variants on TMPRSS15 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the cardiovascular system
48%
Abnormality of head or neck
20%
Abnormality of the nervous system
20%
Growth abnormality
20%
Abnormality of the ear
16%
Abnormality of the musculoskeletal system
16%
Constitutional symptom
16%
Abnormality of the eye
12%
Abnormality of the immune system
12%
Abnormality of blood and blood-forming tissues
8%
Abnormality of the digestive system
8%
Abnormality of the genitourinary system
8%
Abnormality of the integument
8%
Abnormality of the respiratory system
8%
Abnormality of limbs
4%
Abnormality of prenatal development or birth
4%
Neoplasm
4%
Abnormal cellular phenotype
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%

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