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PSPN

Synonyms
PSP
External resources
Summary
This gene encodes a secreted ligand of the GDNF (glial cell line-derived neurotrophic factor) subfamily and TGF-beta (transforming growth factor-beta) superfamily of proteins. The encoded preproprotein is proteolytically processed to generate the mature protein. This protein signals through the RET receptor tyrosine kinase and a GPI-linked coreceptor, and promotes survival of neuronal populations. This protein may play a role in cell death, and nervous system development and function. Elevated expression of this gene has been observed in oral squamous cell carcinoma.

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
19
Likely pathogenic
0
VUS
1,847
Likely benign
44
Benign
0

Patient Phenotypes

Proportions of phenotypes among 19 patients carrying pathogenic or likely pathogenic variants on PSPN gene are displayed below. The following symptoms were found in patients with a variant in PSPN. However, patients may have been diagnosed with a different variant.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
52.6%
Abnormality of the musculoskeletal system
26.3%
Abnormality of head or neck
21.1%
Abnormality of the eye
21.1%
Abnormality of the ear
15.8%
Abnormality of the immune system
15.8%
Abnormality of blood and blood forming tissues
10.5%
Abnormality of the cardiovascular system
10.5%
Abnormality of the digestive system
10.5%
Abnormality of the genitourinary system
10.5%
Abnormality of the integument
10.5%
Growth abnormality
10.5%
Abnormal cellular phenotype
5.3%
Abnormality of limbs
5.3%
Abnormality of metabolism homeostasis
5.3%
Abnormality of the respiratory system
5.3%
Abnormality of prenatal development or birth
0%
Abnormality of the breast
0%
Abnormality of the endocrine system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%
Neoplasm
0%

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