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 |
|---|---|---|---|
| RS749965674 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, Developmental and epileptic encephalopathy |
| RS751170778 | Health Risk | Pathogenic | Early-infantile DEE, Early-infantile DEE |
| RS756998073 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 4, Developmental and epileptic encephalopathy |
| RS767199598 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS794727792 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 4, 7 conditions |
| RS794727970 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 4, Cerebellar vermis hypoplasia |
| RS796053351 | Health Risk | Pathogenic | — |
| RS796053353 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 4, Intellectual disability |
| RS796053354 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 4, Developmental and epileptic encephalopathy |
| RS796053355 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 4, Infantile epilepsy syndrome |
| RS796053357 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 4, Developmental and epileptic encephalopathy |
| RS796053359 | Health Risk | Pathogenic | Inborn genetic diseases, Developmental and epileptic encephalopathy, 4 |
| RS796053362 | Health Risk | Pathogenic | — |
| RS796053364 | Health Risk | Pathogenic | — |
| RS796053366 | Health Risk | Pathogenic | Epileptic encephalopathy, Developmental and epileptic encephalopathy, 4 |
| RS796053368 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 4, Intellectual disability |
| RS796053370 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 4, Early-infantile DEE |
| RS796053373 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 4, Developmental and epileptic encephalopathy |
| RS796053376 | Health Risk | Pathogenic | Early-infantile DEE, Early-infantile DEE |
| RS796053377 | Health Risk | Pathogenic | STXBP1-associated neurodevelopmental disorder, Infantile epilepsy syndrome, Developmental and epileptic encephalopathy |
| RS796053380 | Health Risk | Pathogenic | — |
| RS796053382 | Health Risk | Pathogenic | — |
| RS796053383 | Health Risk | Pathogenic | — |
| RS796053384 | Health Risk | Pathogenic | — |
| RS796053385 | Health Risk | Pathogenic | — |
| RS796053386 | Health Risk | Pathogenic | — |
| RS796053390 | Health Risk | Pathogenic | Early-infantile DEE, Early-infantile DEE |
| RS796053391 | Health Risk | Pathogenic | — |
| RS796053392 | Health Risk | Pathogenic | — |
| RS796053393 | Health Risk | Pathogenic | — |
| RS886041917 | Health Risk | Pathogenic | — |
| RS886041978 | Health Risk | Pathogenic | Infantile epilepsy syndrome, Developmental and epileptic encephalopathy, 4 |
| RS886042031 | Health Risk | Pathogenic | — |
| RS886044141 | Health Risk | Pathogenic | — |
| RS942940725 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 4, Early-infantile DEE |
| RS1085307916 | Health Risk | Pathogenic/Likely pathogenic | Developmental and epileptic encephalopathy, 4, Early-infantile DEE |
| RS1554776853 | Health Risk | Pathogenic/Likely pathogenic | Developmental and epileptic encephalopathy, 4, Developmental and epileptic encephalopathy |
| RS1554776948 | Health Risk | Pathogenic/Likely pathogenic | Developmental and epileptic encephalopathy, 4, Developmental and epileptic encephalopathy |
| RS1838431452 | Health Risk | Pathogenic/Likely pathogenic | Developmental and epileptic encephalopathy, 4, Developmental and epileptic encephalopathy |
| RS1841141204 | Health Risk | Pathogenic/Likely pathogenic | Autism spectrum disorder, Developmental and epileptic encephalopathy, 4 |
| RS2131462357 | Health Risk | Pathogenic/Likely pathogenic | Spastic ataxia, Early-infantile DEE, Spastic ataxia |
| RS2131481488 | Health Risk | Pathogenic/Likely pathogenic | Developmental and epileptic encephalopathy, 4, Developmental and epileptic encephalopathy |
| RS2131536069 | Health Risk | Pathogenic/Likely pathogenic | Seizure, Developmental and epileptic encephalopathy, 4 |
| RS2132444703 | Health Risk | Pathogenic/Likely pathogenic | Developmental and epileptic encephalopathy, 4, Developmental and epileptic encephalopathy |
| RS2538558406 | Health Risk | Pathogenic/Likely pathogenic | Developmental and epileptic encephalopathy, 4, Early-infantile DEE |
| RS2538559195 | Health Risk | Pathogenic/Likely pathogenic | Developmental and epileptic encephalopathy, 4, Developmental and epileptic encephalopathy |
| RS2539639191 | Health Risk | Pathogenic/Likely pathogenic | Developmental and epileptic encephalopathy, 4, Early-infantile DEE |
| RS2539820655 | Health Risk | Pathogenic/Likely pathogenic | Inborn genetic diseases, Early-infantile DEE, Inborn genetic diseases |
| RS587777310 | Health Risk | Pathogenic/Likely pathogenic | Developmental and epileptic encephalopathy, 4, Early-infantile DEE |
| RS727504173 | Health Risk | Pathogenic/Likely pathogenic | Developmental and epileptic encephalopathy, 4, Early-infantile DEE |