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PDGFB

Synonyms
IBGC5, PDGF-2, PDGF2, SIS, SSV, c-sis
External resources
Summary
This gene encodes a member of the protein family comprised of both platelet-derived growth factors (PDGF) and vascular endothelial growth factors (VEGF). The encoded preproprotein is proteolytically processed to generate platelet-derived growth factor subunit B, which can homodimerize, or alternatively, heterodimerize with the related platelet-derived growth factor subunit A. These proteins bind and activate PDGF receptor tyrosine kinases, which play a role in a wide range of developmental processes. Mutations in this gene are associated with meningioma. Reciprocal translocations between chromosomes 22 and 17, at sites where this gene and that for collagen type 1, alpha 1 are located, are associated with dermatofibrosarcoma protuberans, a rare skin tumor. Alternative splicing results in multiple transcript variants.

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
7
Likely pathogenic
0
VUS
22,510
Likely benign
1,830
Benign
399

Patient phenotypes

Proportions of phenotypes among 7 patients carrying pathogenic or likely pathogenic variants on PDGFB gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
85.7%
Abnormality of head or neck
57.1%
Abnormality of the musculoskeletal system
57.1%
Abnormality of the digestive system
42.9%
Abnormality of the eye
42.9%
Abnormality of the genitourinary system
42.9%
Growth abnormality
42.9%
Abnormality of the cardiovascular system
28.6%
Abnormality of the immune system
28.6%
Abnormality of blood and blood-forming tissues
14.3%
Abnormality of limbs
14.3%
Abnormality of the ear
14.3%
Abnormality of the integument
14.3%
Abnormal cellular phenotype
0%
Abnormality of metabolism homeostasis
0%
Abnormality of prenatal development or birth
0%
Abnormality of the breast
0%
Abnormality of the endocrine 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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