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 |
|---|---|---|---|
| RS1057518123 | Health Risk | Likely pathogenic | — |
| RS1057518985 | Health Risk | Likely pathogenic | Epileptic encephalopathy, Epileptic encephalopathy |
| RS1057518989 | Health Risk | Likely pathogenic | Severe intellectual deficiency, Severe intellectual deficiency |
| RS1057522982 | Health Risk | Likely pathogenic | Early-infantile DEE, Early-infantile DEE, Early-infantile DEE |
| RS1057523381 | Health Risk | Likely pathogenic | Infantile epilepsy syndrome, Infantile epilepsy syndrome |
| RS1057524834 | Health Risk | Likely pathogenic | — |
| RS1060501724 | Health Risk | Likely pathogenic | Early-infantile DEE, Early-infantile DEE |
| RS1064794322 | Health Risk | Likely pathogenic | Early-infantile DEE, Early-infantile DEE |
| RS1064796720 | Health Risk | Likely pathogenic | Early-infantile DEE, Developmental and epileptic encephalopathy, 4 |
| RS1085307900 | Health Risk | Likely pathogenic | Developmental and epileptic encephalopathy, 4, Developmental and epileptic encephalopathy |
| RS1085308022 | Health Risk | Likely pathogenic | — |
| RS1131691742 | Health Risk | Likely pathogenic | — |
| RS1131691928 | Health Risk | Likely pathogenic | — |
| RS1135401819 | Health Risk | Likely pathogenic | Non-syndromic intellectual disability, Non-syndromic intellectual disability |
| RS1239532436 | Health Risk | Likely pathogenic | Developmental and epileptic encephalopathy, 4, Developmental and epileptic encephalopathy |
| RS1408532785 | Health Risk | Likely pathogenic | Developmental and epileptic encephalopathy, 4, Developmental and epileptic encephalopathy |
| RS142595450 | Health Risk | Likely pathogenic | Developmental and epileptic encephalopathy, 4, Developmental and epileptic encephalopathy |
| RS1554777474 | Health Risk | Likely pathogenic | — |
| RS1554777488 | Health Risk | Likely pathogenic | — |
| RS1554777733 | Health Risk | Likely pathogenic | Infantile epilepsy syndrome, Infantile epilepsy syndrome |
| RS1554778676 | Health Risk | Likely pathogenic | — |
| RS1588302912 | Health Risk | Likely pathogenic | Developmental and epileptic encephalopathy, 4, Developmental and epileptic encephalopathy |
| RS1588306876 | Health Risk | Likely pathogenic | Developmental and epileptic encephalopathy, 4, Developmental and epileptic encephalopathy |
| RS1588306948 | Health Risk | Likely pathogenic | Developmental and epileptic encephalopathy, 4, Developmental and epileptic encephalopathy |
| RS1588324025 | Health Risk | Likely pathogenic | Developmental and epileptic encephalopathy, 4, Intellectual disability |
| RS1588339504 | Health Risk | Likely pathogenic | Cerebellar ataxia, Intellectual disability, Cerebellar ataxia |
| RS1840653229 | Health Risk | Likely pathogenic | Early-infantile DEE, Early-infantile DEE |
| RS1840653547 | Health Risk | Likely pathogenic | Early-infantile DEE, Early-infantile DEE |
| RS1840655911 | Health Risk | Likely pathogenic | Infantile epilepsy syndrome, Infantile epilepsy syndrome |
| RS1840656743 | Health Risk | Likely pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS1840868164 | Health Risk | Likely pathogenic | Developmental and epileptic encephalopathy, 4, Developmental and epileptic encephalopathy |
| RS1840976417 | Health Risk | Likely pathogenic | Developmental and epileptic encephalopathy, Developmental and epileptic encephalopathy |
| RS1841140785 | Health Risk | Likely pathogenic | Intellectual disability, Intellectual disability |
| RS1841237663 | Health Risk | Likely pathogenic | Developmental and epileptic encephalopathy, 4, Developmental and epileptic encephalopathy |
| RS1841239642 | Health Risk | Likely pathogenic | Early-infantile DEE, Intellectual disability, Early-infantile DEE |
| RS1841284648 | Health Risk | Likely pathogenic | Infantile epilepsy syndrome, Infantile epilepsy syndrome |
| RS1841290957 | Health Risk | Likely pathogenic | Developmental and epileptic encephalopathy, 4, Developmental and epileptic encephalopathy |
| RS1841611651 | Health Risk | Likely pathogenic | Early-infantile DEE, Early-infantile DEE |
| RS1841616772 | Health Risk | Likely pathogenic | — |
| RS1841869298 | Health Risk | Likely pathogenic | Infantile epilepsy syndrome, Early-infantile DEE, Infantile epilepsy syndrome |
| RS1841944944 | Health Risk | Likely pathogenic | Infantile epilepsy syndrome, Infantile epilepsy syndrome |
| RS2131454649 | Health Risk | Likely pathogenic | Developmental and epileptic encephalopathy, 4, Early-infantile DEE |
| RS2131462929 | Health Risk | Likely pathogenic | — |
| RS2131472700 | Health Risk | Likely pathogenic | — |
| RS2131472708 | Health Risk | Likely pathogenic | — |
| RS2131473052 | Health Risk | Likely pathogenic | Developmental and epileptic encephalopathy, 4, Developmental and epileptic encephalopathy |
| RS2131481623 | Health Risk | Likely pathogenic | Developmental and epileptic encephalopathy, 4, Developmental and epileptic encephalopathy |
| RS2131481685 | Health Risk | Likely pathogenic | Early-infantile DEE, Early-infantile DEE |
| RS2131488897 | Health Risk | Likely pathogenic | — |
| RS2131489143 | Health Risk | Likely pathogenic | — |