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STXBP1

Synonyms
DEE4, MUNC18-1, N-Sec1, NSEC1, P67, RBSEC1, UNC18, unc-18A, unc18-1
External resources
Summary
This gene encodes a syntaxin-binding protein. The encoded protein appears to play a role in release of neurotransmitters via regulation of syntaxin, a transmembrane attachment protein receptor. Mutations in this gene have been associated with infantile epileptic encephalopathy-4. Alternatively spliced transcript variants have been described.

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
10
Likely pathogenic
1
VUS
1,088
Likely benign
6,132
Benign
2,848

Patient phenotypes

Proportions of phenotypes among 11 patients carrying pathogenic or likely pathogenic variants on STXBP1 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
100%
Abnormality of the musculoskeletal system
45.5%
Abnormality of head or neck
36.4%
Abnormality of limbs
9.1%
Abnormality of prenatal development or birth
9.1%
Abnormality of the digestive system
9.1%
Abnormality of the ear
9.1%
Abnormality of the endocrine system
9.1%
Abnormality of the genitourinary system
9.1%
Abnormality of the integument
9.1%
Abnormality of the respiratory system
9.1%
Abnormal cellular phenotype
0%
Abnormality of blood and blood-forming tissues
0%
Abnormality of metabolism homeostasis
0%
Abnormality of the breast
0%
Abnormality of the cardiovascular system
0%
Abnormality of the eye
0%
Abnormality of the immune system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%
Growth abnormality
0%
Neoplasm
0%

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