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 |
|---|---|---|---|
| RS1588354779 | Health Risk | Pathogenic | — |
| RS1588355023 | Health Risk | Pathogenic | — |
| RS1840967817 | Health Risk | Pathogenic | Early-infantile DEE, Early-infantile DEE |
| RS1841026473 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 4, Developmental and epileptic encephalopathy |
| RS1841133653 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, Developmental and epileptic encephalopathy |
| RS1841137524 | Health Risk | Pathogenic | — |
| RS1841238690 | Health Risk | Pathogenic | Early-infantile DEE, Early-infantile DEE, Early-infantile DEE |
| RS1841240415 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 4, Early-infantile DEE |
| RS1841286087 | Health Risk | Pathogenic | — |
| RS1841289209 | Health Risk | Pathogenic | Infantile epilepsy syndrome, Early-infantile DEE, Infantile epilepsy syndrome |
| RS1841291126 | Health Risk | Pathogenic | — |
| RS1841291684 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS1841465369 | Health Risk | Pathogenic | — |
| RS1841564743 | Health Risk | Pathogenic | Infantile epilepsy syndrome, Inborn genetic diseases, Infantile epilepsy syndrome |
| RS1841566082 | Health Risk | Pathogenic | — |
| RS1841566644 | Health Risk | Pathogenic | Early-infantile DEE, Early-infantile DEE |
| RS1841611480 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 4, Developmental and epileptic encephalopathy |
| RS1841613716 | Health Risk | Pathogenic | Early-infantile DEE, Early-infantile DEE |
| RS1841614275 | Health Risk | Pathogenic | — |
| RS1841615616 | Health Risk | Pathogenic | Early-infantile DEE, Early-infantile DEE |
| RS1841723344 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, Developmental and epileptic encephalopathy |
| RS1841724942 | Health Risk | Pathogenic | — |
| RS1841766225 | Health Risk | Pathogenic | Early-infantile DEE, Early-infantile DEE |
| RS1841870815 | Health Risk | Pathogenic | — |
| RS1841946692 | Health Risk | Pathogenic | Early-infantile DEE, Early-infantile DEE |
| RS1842039791 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 4, Developmental and epileptic encephalopathy |
| RS1842039949 | Health Risk | Pathogenic | Infantile epilepsy syndrome, Infantile epilepsy syndrome |
| RS1842042825 | Health Risk | Pathogenic | Early-infantile DEE, Early-infantile DEE |
| RS1842044352 | Health Risk | Pathogenic | — |
| RS1842044505 | Health Risk | Pathogenic | Early-infantile DEE, Developmental and epileptic encephalopathy, 4 |
| RS1842045865 | Health Risk | Pathogenic | — |
| RS1842046459 | Health Risk | Pathogenic | Infantile epilepsy syndrome, Early-infantile DEE, Infantile epilepsy syndrome |
| RS2131450364 | Health Risk | Pathogenic | Early-infantile DEE, Early-infantile DEE |
| RS2131451053 | Health Risk | Pathogenic | Early-infantile DEE, Early-infantile DEE |
| RS2131451091 | Health Risk | Pathogenic | Early-infantile DEE, Early-infantile DEE |
| RS2131462829 | Health Risk | Pathogenic | Early-infantile DEE, Early-infantile DEE |
| RS2131469253 | Health Risk | Pathogenic | — |
| RS2131469592 | Health Risk | Pathogenic | Early-infantile DEE, Early-infantile DEE |
| RS2131472407 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 4, Developmental and epileptic encephalopathy |
| RS2131481227 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 4, Developmental and epileptic encephalopathy |
| RS2131481907 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 4, Developmental and epileptic encephalopathy |
| RS2131488795 | Health Risk | Pathogenic | Early-infantile DEE, Early-infantile DEE |
| RS2131488963 | Health Risk | Pathogenic | Early-infantile DEE, Early-infantile DEE |
| RS2131497207 | Health Risk | Pathogenic | Early-infantile DEE, Early-infantile DEE |
| RS2131497242 | Health Risk | Pathogenic | Early-infantile DEE, Early-infantile DEE |
| RS2131501460 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 4, Developmental and epileptic encephalopathy |
| RS2131510168 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 4, Developmental and epileptic encephalopathy |
| RS2131510237 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 4, Developmental and epileptic encephalopathy |
| RS2131513223 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 4, Early-infantile DEE |
| RS2131513660 | Health Risk | Pathogenic | Early-infantile DEE, Early-infantile DEE |