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PRSS12

Synonyms
BSSP-3, BSSP3, MRT1
External resources
Summary
This gene encodes a member of the trypsin family of serine proteases and contains a signal peptide, a proline-rich region, a Kringle domain, four scavenger receptor cysteine-rich domains, and a trypsin-like serine protease domain. The protein, sometimes referred to as neurotrypsin or motopsin, is secreted from neuronal cells and localizes to the synaptic cleft. Studies in mice show that this protein cleaves a protein, agrin, that is important for the formation and maintenance of exitatory synapses. Defects in this gene cause a form of autosomal recessive cognitive impairment (MRT1).

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
115
Likely pathogenic
0
VUS
3,069
Likely benign
1,512
Benign
30

Patient phenotypes

Proportions of phenotypes among 115 patients carrying pathogenic or likely pathogenic variants on PRSS12 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
38.3%
Abnormality of the cardiovascular system
24.3%
Abnormality of the musculoskeletal system
22.6%
Abnormality of head or neck
20%
Abnormality of the eye
13.9%
Growth abnormality
13%
Abnormality of the ear
10.4%
Abnormality of the genitourinary system
8.7%
Abnormality of limbs
7.8%
Abnormality of the digestive system
7.8%
Abnormality of the integument
7%
Abnormality of prenatal development or birth
6.1%
Abnormality of the endocrine system
3.5%
Abnormality of blood and blood-forming tissues
2.6%
Abnormality of the immune system
2.6%
Constitutional symptom
2.6%
Neoplasm
2.6%
Abnormality of the breast
0.9%
Abnormality of the respiratory system
0.9%
Abnormality of the voice
0.9%
Abnormal cellular phenotype
0%
Abnormality of metabolism homeostasis
0%
Abnormality of the thoracic cavity
0%

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