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STX18

Synonyms
Ufe1
External resources
Summary
This gene encodes a member of the syntaxin family of soluble N-ethylmaleimide-sensitive factor attachment protein receptors (SNAREs) which is part of a membrane tethering complex that includes other SNAREs and several peripheral membrane proteins, and is involved in vesicular transport between the endoplasmic reticulum (ER) and the Golgi complex. The encoded protein is important for the organization of the smooth, rough, and exit site ER subdomains. A pseudogene of this gene has been identified. Alternative splicing results in multiple transcript variants.

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
18
Likely pathogenic
0
VUS
1,684
Likely benign
64
Benign
0

Patient Phenotypes

Proportions of phenotypes among 18 patients carrying pathogenic or likely pathogenic variants on STX18 gene are displayed below. The following symptoms were found in patients with a variant in STX18. However, patients may have been diagnosed with a different variant.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
44.4%
Abnormality of the musculoskeletal system
38.9%
Abnormality of the eye
27.8%
Abnormality of head or neck
22.2%
Abnormality of the cardiovascular system
16.7%
Abnormality of the genitourinary system
11.1%
Abnormality of the integument
11.1%
Growth abnormality
11.1%
Abnormality of limbs
5.6%
Abnormality of the ear
5.6%
Abnormality of the respiratory system
5.6%
Abnormal cellular phenotype
0%
Abnormality of blood and blood forming tissues
0%
Abnormality of metabolism homeostasis
0%
Abnormality of prenatal development or birth
0%
Abnormality of the breast
0%
Abnormality of the digestive system
0%
Abnormality of the endocrine system
0%
Abnormality of the immune system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%
Neoplasm
0%

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