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 |
|---|---|---|---|
| RS112002192 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 4, Developmental and epileptic encephalopathy |
| RS112111568 | Health Risk | Pathogenic | — |
| RS1165371723 | Health Risk | Pathogenic | Early-infantile DEE, Early-infantile DEE |
| RS121918317 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 4, Early-infantile DEE |
| RS121918318 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 4, Inborn genetic diseases |
| RS121918319 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 4, Developmental and epileptic encephalopathy |
| RS121918320 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 4, Developmental and epileptic encephalopathy |
| RS121918321 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 4, Infantile epilepsy syndrome |
| RS1219725395 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 4, Developmental and epileptic encephalopathy |
| RS1461664423 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 4, Developmental and epileptic encephalopathy |
| RS1554775956 | Health Risk | Pathogenic | Early-infantile DEE, Early-infantile DEE |
| RS1554775960 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 4, Developmental and epileptic encephalopathy |
| RS1554776228 | Health Risk | Pathogenic | Early-infantile DEE, Early-infantile DEE |
| RS1554776674 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 4, Infantile epilepsy syndrome |
| RS1554776842 | Health Risk | Pathogenic | Inborn genetic diseases, Infantile epilepsy syndrome, Inborn genetic diseases |
| RS1554776954 | Health Risk | Pathogenic | Global developmental delay, Atypical behavior, Seizure |
| RS1554777375 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS1554777464 | Health Risk | Pathogenic | Uterine corpus endometrial carcinoma, Early-infantile DEE, Uterine corpus endometrial carcinoma |
| RS1554777470 | Health Risk | Pathogenic | Infantile epilepsy syndrome, Early-infantile DEE, Infantile epilepsy syndrome |
| RS1554777480 | Health Risk | Pathogenic | Severe global developmental delay, Microcephaly, Developmental and epileptic encephalopathy |
| RS1554777496 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 4, Early-infantile DEE |
| RS1554777708 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 4, Neurodevelopmental disorder |
| RS1554777919 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS1554778215 | Health Risk | Pathogenic | — |
| RS1554778227 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS1554778417 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 4, Early-infantile DEE |
| RS1554778509 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS1554778657 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 4, Early-infantile DEE |
| RS1554778928 | Health Risk | Pathogenic | Infantile epilepsy syndrome, Infantile epilepsy syndrome |
| RS1554778930 | Health Risk | Pathogenic | Infantile epilepsy syndrome, Infantile epilepsy syndrome |
| RS1554778941 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS1564333757 | Health Risk | Pathogenic | Early-infantile DEE, Early-infantile DEE |
| RS1564346538 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 4, Early-infantile DEE |
| RS1564349850 | Health Risk | Pathogenic | Early-infantile DEE, Early-infantile DEE |
| RS1564351084 | Health Risk | Pathogenic | — |
| RS1564351103 | Health Risk | Pathogenic | Early-infantile DEE, Early-infantile DEE |
| RS1564351388 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 4, Developmental and epileptic encephalopathy |
| RS1564352002 | Health Risk | Pathogenic | Early-infantile DEE, Early-infantile DEE |
| RS1564355614 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 4, Developmental and epileptic encephalopathy |
| RS1564355642 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 4, Developmental and epileptic encephalopathy |
| RS1564356269 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 4, Developmental and epileptic encephalopathy |
| RS1564357089 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 4, Developmental and epileptic encephalopathy |
| RS1588294498 | Health Risk | Pathogenic | Intellectual disability, Spasticity, Intellectual disability |
| RS1588306826 | Health Risk | Pathogenic | — |
| RS1588313568 | Health Risk | Pathogenic | Early-infantile DEE, Early-infantile DEE, Early-infantile DEE |
| RS1588317190 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 4, Developmental and epileptic encephalopathy |
| RS1588332693 | Health Risk | Pathogenic | — |
| RS1588339898 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 4, Developmental and epileptic encephalopathy |
| RS1588341629 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 4, Developmental and epileptic encephalopathy |
| RS1588346359 | Health Risk | Pathogenic | — |