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PREPL

Synonyms
CMS22
External resources
Summary
The protein encoded by this gene belongs to the prolyl oligopeptidase subfamily of serine peptidases. Mutations in this gene have been associated with hypotonia-cystinuria syndrome, also known as the 2p21 deletion syndrome. Several alternatively spliced transcript variants encoding either the same or different isoforms have been described for this gene.

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
125
Likely pathogenic
0
VUS
5,918
Likely benign
4,556
Benign
50

Patient phenotypes

Proportions of phenotypes among 123 patients carrying pathogenic or likely pathogenic variants on PREPL gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
37.4%
Abnormality of the cardiovascular system
25.2%
Abnormality of the musculoskeletal system
25.2%
Abnormality of head or neck
13%
Abnormality of limbs
10.6%
Abnormality of the ear
10.6%
Abnormality of the eye
9.8%
Abnormality of the genitourinary system
8.1%
Abnormality of the integument
6.5%
Growth abnormality
6.5%
Abnormality of the digestive system
5.7%
Abnormality of blood and blood-forming tissues
4.9%
Abnormality of the immune system
4.9%
Abnormality of the respiratory system
2.4%
Constitutional symptom
2.4%
Abnormality of the endocrine system
1.6%
Abnormality of prenatal development or birth
0.8%
Neoplasm
0.8%
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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