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SYTL3

Synonyms
SLP3
External resources
Summary
The protein encoded by this gene belongs to a family of peripheral membrane proteins that play a role in vesicular trafficking. This protein binds phospholipids in the presence of calcium ions. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.

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
204
Likely pathogenic
23
VUS
5,347
Likely benign
374
Benign
0

Patient phenotypes

Proportions of phenotypes among 226 patients carring pathogenic or likely pathogenic variants on SYTL3 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
35.8%
Abnormality of the musculoskeletal system
19.9%
Abnormality of the eye
18.1%
Abnormality of head or neck
14.6%
Abnormality of the cardiovascular system
14.6%
Abnormality of the ear
14.6%
Abnormality of the genitourinary system
8.8%
Abnormality of the immune system
7.5%
Growth abnormality
7.5%
Abnormality of the digestive system
5.8%
Abnormality of limbs
4.4%
Abnormality of the integument
4.4%
Abnormality of blood and blood-forming tissues
3.5%
Abnormality of the respiratory system
3.1%
Neoplasm
3.1%
Abnormality of prenatal development or birth
1.8%
Abnormality of the endocrine system
1.8%
Abnormal cellular phenotype
0.9%
Constitutional symptom
0.9%
Abnormality of metabolism homeostasis
0%
Abnormality of the breast
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%

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