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TPTE

Synonyms
CT44, PTEN2
External resources
Summary
This gene encodes a PTEN-related tyrosine phosphatase which may play a role in the signal transduction pathways of the endocrine or spermatogenic function of the testis. Alternative splicing results in multiple transcript variants.

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
201
Likely pathogenic
173
VUS
36,445
Likely benign
651
Benign
0

Patient Phenotypes

Proportions of phenotypes among 363 patients carrying pathogenic or likely pathogenic variants on TPTE gene are displayed below. The following symptoms were found in patients with a variant in TPTE. However, patients may have been diagnosed with a different variant.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
37.2%
Abnormality of the eye
28.9%
Abnormality of the musculoskeletal system
28.4%
Abnormality of head or neck
20.9%
Abnormality of the cardiovascular system
14.3%
Abnormality of the ear
14%
Growth abnormality
13.5%
Abnormality of limbs
12.7%
Abnormality of the integument
12.7%
Abnormality of metabolism homeostasis
11.8%
Abnormality of the immune system
10.7%
Abnormality of the genitourinary system
9.9%
Abnormality of the digestive system
8.5%
Abnormality of blood and blood forming tissues
5.5%
Abnormality of the endocrine system
4.4%
Neoplasm
3.9%
Abnormal cellular phenotype
3%
Abnormality of the respiratory system
3%
Constitutional symptom
2.2%
Abnormality of prenatal development or birth
1.9%
Abnormality of the breast
0.8%
Abnormality of the voice
0.3%
Abnormality of the thoracic cavity
0%

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