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SELP

Synonyms
CD62, CD62P, GMP140, GRMP, LECAM3, PADGEM, PSEL
External resources
Summary
This gene encodes a 140 kDa protein that is stored in the alpha-granules of platelets and Weibel-Palade bodies of endothelial cells. This protein redistributes to the plasma membrane during platelet activation and degranulation and mediates the interaction of activated endothelial cells or platelets with leukocytes. The membrane protein is a calcium-dependent receptor that binds to sialylated forms of Lewis blood group carbohydrate antigens on neutrophils and monocytes. Alternative splice variants may occur but are not well documented.

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
28
Likely pathogenic
0
VUS
18,294
Likely benign
613
Benign
0

Patient Phenotypes

Proportions of phenotypes among 19 patients carrying pathogenic or likely pathogenic variants on SELP gene are displayed below. The following symptoms were found in patients with a variant in SELP. 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
42.1%
Abnormality of head or neck
36.8%
Abnormality of the ear
36.8%
Abnormality of the musculoskeletal system
36.8%
Growth abnormality
36.8%
Abnormality of limbs
26.3%
Abnormality of the digestive system
21.1%
Abnormality of the integument
21.1%
Abnormality of metabolism homeostasis
15.8%
Abnormality of the cardiovascular system
15.8%
Abnormality of the respiratory system
15.8%
Abnormality of the immune system
10.5%
Abnormality of blood and blood forming tissues
5.3%
Abnormality of prenatal development or birth
5.3%
Abnormality of the breast
5.3%
Abnormal cellular phenotype
0%
Abnormality of the endocrine system
0%
Abnormality of the genitourinary system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%
Neoplasm
0%

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