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SYTL5

Synonyms
slp5
External resources
Summary
The protein encoded by this gene belongs to the synaptotagmin-like (Slp) protein family, which contains a unique homology domain at the N-terminus, referred to as the Slp homology domain (SHD). The SHD functions as a binding site for Rab27A, which plays a role in protein transport. Expression of this gene is restricted to placenta and liver, suggesting that it might be involved in Rab27A-dependent membrane trafficking in specific tissues. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.

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
8
Likely pathogenic
1
VUS
2,258
Likely benign
1,164
Benign
0

Patient phenotypes

Proportions of phenotypes among 9 patients carrying pathogenic or likely pathogenic variants on SYTL5 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
44.4%
Abnormality of head or neck
33.3%
Abnormality of the eye
33.3%
Abnormality of the cardiovascular system
22.2%
Abnormality of the genitourinary system
22.2%
Abnormality of the musculoskeletal system
22.2%
Growth abnormality
22.2%
Neoplasm
22.2%
Abnormality of blood and blood-forming tissues
11.1%
Abnormality of limbs
11.1%
Abnormality of the digestive system
11.1%
Abnormality of the ear
11.1%
Abnormality of the immune system
11.1%
Abnormality of the integument
11.1%
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%

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