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 |
|---|---|---|---|
| RS2131497300 | Health Risk | Likely pathogenic | Developmental and epileptic encephalopathy, 4, Developmental and epileptic encephalopathy |
| RS2131501072 | Health Risk | Likely pathogenic | Developmental and epileptic encephalopathy, 4, Developmental and epileptic encephalopathy |
| RS2131501481 | Health Risk | Likely pathogenic | Developmental and epileptic encephalopathy, 4, Developmental and epileptic encephalopathy |
| RS2131513670 | Health Risk | Likely pathogenic | Developmental and epileptic encephalopathy, 4, Early-infantile DEE |
| RS2131528405 | Health Risk | Likely pathogenic | Developmental and epileptic encephalopathy, 4, Developmental and epileptic encephalopathy |
| RS2131543392 | Health Risk | Likely pathogenic | Developmental and epileptic encephalopathy, Developmental and epileptic encephalopathy |
| RS2131561276 | Health Risk | Likely pathogenic | — |
| RS2132444862 | Health Risk | Likely pathogenic | — |
| RS2132460935 | Health Risk | Likely pathogenic | Early-infantile DEE, Early-infantile DEE |
| RS2538559187 | Health Risk | Likely pathogenic | Early-infantile DEE, Early-infantile DEE |
| RS2538575897 | Health Risk | Likely pathogenic | Early-infantile DEE, Early-infantile DEE |
| RS2538576553 | Health Risk | Likely pathogenic | — |
| RS2538576581 | Health Risk | Likely pathogenic | Early-infantile DEE, Early-infantile DEE |
| RS2538600189 | Health Risk | Likely pathogenic | Developmental and epileptic encephalopathy, 4, Developmental and epileptic encephalopathy |
| RS2538600335 | Health Risk | Likely pathogenic | Developmental and epileptic encephalopathy, 4, Developmental and epileptic encephalopathy |
| RS2538613011 | Health Risk | Likely pathogenic | Developmental and epileptic encephalopathy, 4, Developmental and epileptic encephalopathy |
| RS2539639339 | Health Risk | Likely pathogenic | — |
| RS2539777941 | Health Risk | Likely pathogenic | Developmental and epileptic encephalopathy, 4, Developmental and epileptic encephalopathy |
| RS2539802835 | Health Risk | Likely pathogenic | Developmental and epileptic encephalopathy, 4, Developmental and epileptic encephalopathy |
| RS2539809075 | Health Risk | Likely pathogenic | Developmental and epileptic encephalopathy, 4, Developmental and epileptic encephalopathy |
| RS2539816328 | Health Risk | Likely pathogenic | Developmental and epileptic encephalopathy, 4, Developmental and epileptic encephalopathy |
| RS2539820167 | Health Risk | Likely pathogenic | Developmental and epileptic encephalopathy, 4, Developmental and epileptic encephalopathy |
| RS2539820308 | Health Risk | Likely pathogenic | Developmental and epileptic encephalopathy, 4, Developmental and epileptic encephalopathy |
| RS2539820701 | Health Risk | Likely pathogenic | Early-infantile DEE, Early-infantile DEE |
| RS2539835039 | Health Risk | Likely pathogenic | Developmental and epileptic encephalopathy, 4, Developmental and epileptic encephalopathy |
| RS587784455 | Health Risk | Likely pathogenic | Developmental and epileptic encephalopathy, 4, Developmental and epileptic encephalopathy |
| RS796053352 | Health Risk | Likely pathogenic | Infantile epilepsy syndrome, Early-infantile DEE, Infantile epilepsy syndrome |
| RS796053361 | Health Risk | Likely pathogenic | Developmental and epileptic encephalopathy, 4, Inborn genetic diseases |
| RS796053367 | Health Risk | Likely pathogenic | Epileptic encephalopathy, Infantile epilepsy syndrome, Developmental and epileptic encephalopathy |
| RS796053379 | Health Risk | Likely pathogenic | Infantile epilepsy syndrome, Infantile epilepsy syndrome, Infantile epilepsy syndrome |
| RS886039435 | Health Risk | Likely pathogenic | Infantile epilepsy syndrome, Early-infantile DEE, Intellectual disability |
| RS886041337 | Health Risk | Likely pathogenic | Developmental and epileptic encephalopathy, 4, Early-infantile DEE |
| RS1057517856 | Health Risk | Pathogenic | — |
| RS1057518154 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 4, Developmental and epileptic encephalopathy |
| RS1057518167 | Health Risk | Pathogenic | — |
| RS1057518331 | Health Risk | Pathogenic | — |
| RS1057519189 | Health Risk | Pathogenic | Epileptic encephalopathy, Developmental and epileptic encephalopathy, 4 |
| RS1057519501 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 4, Inborn genetic diseases |
| RS1057519537 | Health Risk | Pathogenic | Epileptic encephalopathy, Epileptic encephalopathy |
| RS1057519538 | Health Risk | Pathogenic | Epileptic encephalopathy, Epileptic encephalopathy |
| RS1057519539 | Health Risk | Pathogenic | Epileptic encephalopathy, Epileptic encephalopathy |
| RS1057520544 | Health Risk | Pathogenic | — |
| RS1057520631 | Health Risk | Pathogenic | Infantile epilepsy syndrome, Infantile epilepsy syndrome |
| RS1060501722 | Health Risk | Pathogenic | Early-infantile DEE, Early-infantile DEE |
| RS1060501723 | Health Risk | Pathogenic | Early-infantile DEE, Early-infantile DEE |
| RS1064793414 | Health Risk | Pathogenic | — |
| RS1064793984 | Health Risk | Pathogenic | — |
| RS1064795999 | Health Risk | Pathogenic | — |
| RS1064796989 | Health Risk | Pathogenic | — |
| RS1085307465 | Health Risk | Pathogenic | — |