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PTPRZ1

Synonyms
HPTPZ, HPTPzeta, PTP-ZETA, PTP18, PTPRZ, PTPZ, R-PTP-zeta-2, RPTPB, RPTPbeta, phosphacan
External resources
Summary
This gene encodes a member of the receptor protein tyrosine phosphatase family. Expression of this gene is restricted to the central nervous system (CNS), and it may be involved in the regulation of specific developmental processes in the CNS. Alternatively spliced transcript variants encoding 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
18
Likely pathogenic
0
VUS
15,202
Likely benign
2,288
Benign
0

Patient phenotypes

Proportions of phenotypes among 14 patients carrying pathogenic or likely pathogenic variants on PTPRZ1 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the eye
35.7%
Abnormality of the ear
28.6%
Abnormality of the musculoskeletal system
21.4%
Abnormality of head or neck
14.3%
Abnormality of the integument
14.3%
Abnormality of the nervous system
14.3%
Growth abnormality
14.3%
Abnormality of limbs
7.1%
Abnormality of prenatal development or birth
7.1%
Abnormality of the genitourinary system
7.1%
Abnormal cellular phenotype
0%
Abnormality of blood and blood-forming tissues
0%
Abnormality of metabolism homeostasis
0%
Abnormality of the breast
0%
Abnormality of the cardiovascular system
0%
Abnormality of the digestive system
0%
Abnormality of the endocrine system
0%
Abnormality of the immune system
0%
Abnormality of the respiratory system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%
Neoplasm
0%

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