STXBP1 Chromosome 9
Syntaxin binding protein 1
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What This Gene Does
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. [provided by RefSeq, Feb 2010]
Associated Conditions (40)
Inborn genetic diseases
Developmental and epileptic encephalopathy
4
Early-infantile DEE
Infantile epilepsy syndrome
Multiple congenital anomalies/dysmorphic syndrome
Intellectual disability
Epileptic encephalopathy
See cases
Seizure
STXBP1-related disorder
West syndrome
Cerebellar vermis hypoplasia
Congenital cerebellar hypoplasia
STXBP1-related neurodevelopmental disorder
Spastic ataxia
Autism
Photosensitive tonic-clonic seizure
Severe intellectual disability
Neurodegeneration
+20 more conditions
Key Variants
RS1046891783
Conflicting classifications of pathogenicity
Inborn genetic diseases, Developmental and epileptic encephalopathy, 4
Health Risk
RS1057524795
Conflicting classifications of pathogenicity
Infantile epilepsy syndrome, Developmental and epileptic encephalopathy, 4
Health Risk
RS1211863124
Conflicting classifications of pathogenicity
Developmental and epileptic encephalopathy, 4, Developmental and epileptic encephalopathy
Health Risk
RS1244732832
Conflicting classifications of pathogenicity
Inborn genetic diseases, Multiple congenital anomalies/dysmorphic syndrome, Early-infantile DEE
Health Risk
RS1316686443
Conflicting classifications of pathogenicity
Developmental and epileptic encephalopathy, 4, Intellectual disability
Health Risk
RS1364462270
Conflicting classifications of pathogenicity
Early-infantile DEE, Early-infantile DEE
Health Risk
RS1381421236
Conflicting classifications of pathogenicity
Inborn genetic diseases, Early-infantile DEE, Inborn genetic diseases
Health Risk
RS1410933215
Conflicting classifications of pathogenicity
Inborn genetic diseases, Early-infantile DEE, Inborn genetic diseases
Health Risk
RS1462537561
Conflicting classifications of pathogenicity
Early-infantile DEE, Early-infantile DEE
Health Risk
RS147607230
Conflicting classifications of pathogenicity
Developmental and epileptic encephalopathy, 4, Early-infantile DEE
Health Risk
RS1478208887
Conflicting classifications of pathogenicity
Early-infantile DEE, Early-infantile DEE
Health Risk
RS148131665
Conflicting classifications of pathogenicity
Infantile epilepsy syndrome, Early-infantile DEE, Infantile epilepsy syndrome
Health Risk
All Variants (356)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1046891783 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Developmental and epileptic encephalopathy, 4 |
| RS1057524795 | Health Risk | Conflicting classifications of pathogenicity | Infantile epilepsy syndrome, Developmental and epileptic encephalopathy, 4 |
| RS1211863124 | Health Risk | Conflicting classifications of pathogenicity | Developmental and epileptic encephalopathy, 4, Developmental and epileptic encephalopathy |
| RS1244732832 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Multiple congenital anomalies/dysmorphic syndrome, Early-infantile DEE |
| RS1316686443 | Health Risk | Conflicting classifications of pathogenicity | Developmental and epileptic encephalopathy, 4, Intellectual disability |
| RS1364462270 | Health Risk | Conflicting classifications of pathogenicity | Early-infantile DEE, Early-infantile DEE |
| RS1381421236 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Early-infantile DEE, Inborn genetic diseases |
| RS1410933215 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Early-infantile DEE, Inborn genetic diseases |
| RS1462537561 | Health Risk | Conflicting classifications of pathogenicity | Early-infantile DEE, Early-infantile DEE |
| RS147607230 | Health Risk | Conflicting classifications of pathogenicity | Developmental and epileptic encephalopathy, 4, Early-infantile DEE |
| RS1478208887 | Health Risk | Conflicting classifications of pathogenicity | Early-infantile DEE, Early-infantile DEE |
| RS148131665 | Health Risk | Conflicting classifications of pathogenicity | Infantile epilepsy syndrome, Early-infantile DEE, Infantile epilepsy syndrome |
| RS1554777718 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Early-infantile DEE, Inborn genetic diseases |
| RS1554777932 | Health Risk | Conflicting classifications of pathogenicity | Early-infantile DEE, Early-infantile DEE |
| RS1840652151 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Early-infantile DEE, Inborn genetic diseases |
| RS1840656429 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Early-infantile DEE, Inborn genetic diseases |
| RS1840970680 | Health Risk | Conflicting classifications of pathogenicity | Developmental and epileptic encephalopathy, 4, Inborn genetic diseases |
| RS1841030849 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Early-infantile DEE, Inborn genetic diseases |
| RS1841142873 | Health Risk | Conflicting classifications of pathogenicity | Early-infantile DEE, Early-infantile DEE |
| RS1841769844 | Health Risk | Conflicting classifications of pathogenicity | Intellectual disability, Epileptic encephalopathy, Intellectual disability |
| RS1842136149 | Health Risk | Conflicting classifications of pathogenicity | Early-infantile DEE, Early-infantile DEE |
| RS201809337 | Health Risk | Conflicting classifications of pathogenicity | Developmental and epileptic encephalopathy, 4, Inborn genetic diseases |
| RS2131481245 | Health Risk | Conflicting classifications of pathogenicity | Early-infantile DEE, Early-infantile DEE |
| RS2131536431 | Health Risk | Conflicting classifications of pathogenicity | See cases, Developmental and epileptic encephalopathy, 4 |
| RS2132275587 | Health Risk | Conflicting classifications of pathogenicity | Seizure, Early-infantile DEE, Seizure |
| RS2538559163 | Health Risk | Conflicting classifications of pathogenicity | Early-infantile DEE, Early-infantile DEE |
| RS34830702 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, STXBP1-related disorder, Early-infantile DEE |
| RS370249358 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Early-infantile DEE, Inborn genetic diseases |
| RS372348815 | Health Risk | Conflicting classifications of pathogenicity | Early-infantile DEE, Early-infantile DEE |
| RS374269726 | Health Risk | Conflicting classifications of pathogenicity | Developmental and epileptic encephalopathy, 4, Inborn genetic diseases |
| RS375972545 | Health Risk | Conflicting classifications of pathogenicity | Developmental and epileptic encephalopathy, 4, Inborn genetic diseases |
| RS398123695 | Health Risk | Conflicting classifications of pathogenicity | Developmental and epileptic encephalopathy, 4, West syndrome |
| RS746719502 | Health Risk | Conflicting classifications of pathogenicity | STXBP1-related disorder, Early-infantile DEE, STXBP1-related disorder |
| RS747288455 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Early-infantile DEE, Inborn genetic diseases |
| RS748965227 | Health Risk | Conflicting classifications of pathogenicity | Early-infantile DEE, Early-infantile DEE |
| RS749807465 | Health Risk | Conflicting classifications of pathogenicity | Early-infantile DEE, Early-infantile DEE |
| RS750968891 | Health Risk | Conflicting classifications of pathogenicity | STXBP1-related disorder, Early-infantile DEE, STXBP1-related disorder |
| RS754349925 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS754668616 | Health Risk | Conflicting classifications of pathogenicity | Early-infantile DEE, Early-infantile DEE |
| RS757607352 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Early-infantile DEE, Inborn genetic diseases |
| RS762767233 | Health Risk | Conflicting classifications of pathogenicity | Early-infantile DEE, Early-infantile DEE |
| RS764758291 | Health Risk | Conflicting classifications of pathogenicity | Spastic ataxia, Inborn genetic diseases, Early-infantile DEE |
| RS773261815 | Health Risk | Conflicting classifications of pathogenicity | Early-infantile DEE, Early-infantile DEE |
| RS774228113 | Health Risk | Conflicting classifications of pathogenicity | Early-infantile DEE, Early-infantile DEE |
| RS777499631 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Early-infantile DEE, Inborn genetic diseases |
| RS796053356 | Health Risk | Conflicting classifications of pathogenicity | Autism, Photosensitive tonic-clonic seizure, Severe intellectual disability |
| RS796053372 | Health Risk | Conflicting classifications of pathogenicity | Early-infantile DEE, Early-infantile DEE |
| RS796053378 | Health Risk | Conflicting classifications of pathogenicity | Early-infantile DEE, Early-infantile DEE |
| RS895077278 | Health Risk | Conflicting classifications of pathogenicity | Developmental and epileptic encephalopathy, 4, Early-infantile DEE |
| RS1057517880 | Health Risk | Likely pathogenic | — |