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PTPDC1

Synonyms
PTP9Q22
External resources
Summary
The protein encoded by this gene contains a characteristic motif of protein tyrosine phosphatases (PTPs). PTPs regulate activities of phosphoproteins through dephosphorylation. They are signaling molecules involved in the regulation of a wide variety of biological processes. The specific function of this protein has not yet been determined. Alternatively spliced transcript variants encoding distinct isoforms have been identified.

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
2,844
Likely benign
11
Benign
0

Patient Phenotypes

Proportions of phenotypes among 19 patients carrying pathogenic or likely pathogenic variants on PTPDC1 gene are displayed below. The following symptoms were found in patients with a variant in PTPDC1. However, patients may have been diagnosed with a different variant.

Phenotype class
Patients in 3billion (%)
Abnormality of the eye
52.6%
Abnormality of the nervous system
31.6%
Abnormality of the musculoskeletal system
26.3%
Abnormality of the cardiovascular system
15.8%
Abnormality of the immune system
10.5%
Growth abnormality
10.5%
Abnormality of head or neck
5.3%
Abnormality of metabolism homeostasis
5.3%
Abnormality of prenatal development or birth
5.3%
Abnormality of the digestive system
5.3%
Abnormality of the ear
5.3%
Abnormality of the integument
5.3%
Abnormal cellular phenotype
0%
Abnormality of blood and blood forming tissues
0%
Abnormality of limbs
0%
Abnormality of the breast
0%
Abnormality of the endocrine system
0%
Abnormality of the genitourinary 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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