SNAP25 Chromosome 20
Synaptosome associated protein 25
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What This Gene Does
Synaptic vesicle membrane docking and fusion is mediated by SNAREs (soluble N-ethylmaleimide-sensitive factor attachment protein receptors) located on the vesicle membrane (v-SNAREs) and the target membrane (t-SNAREs). The assembled v-SNARE/t-SNARE complex consists of a bundle of four helices, one of which is supplied by v-SNARE and the other three by t-SNARE. For t-SNAREs on the plasma membrane, the protein syntaxin supplies one helix and the protein encoded by this gene contributes the other two. Therefore, this gene product is a presynaptic plasma membrane protein involved in the regulation of neurotransmitter release. Two alternative transcript variants encoding different protein isoforms have been described for this gene. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
SNAREs
Locus Type
gene with protein product
Location
20p12.2
Ensembl
ENSG00000132639
Associated Conditions (20)
Developmental and epileptic encephalopathy
Seizure
Global developmental delay
Optic atrophy
Stereotypic movement disorder
Microcephaly
Congenital myasthenic syndrome 18
Inborn genetic diseases
SNAP25-related disorder
SNAP25-related early-onset developmental and epileptic encephalopathy
Neurodevelopmental disorder
SNAP25 related neurodevelopmental disorder
Presynaptic congenital myasthenic syndrome
Unilateral Hypotonia
Epilepsy with generalized tonic-clonic seizures
Focal epilepsy
Intellectual disability
Severe intellectual disability
2
SNAP25-related developmental delays and epileptic encephalopathies
Key Variants
RS2064035939
Conflicting classifications of pathogenicity
Developmental and epileptic encephalopathy, Developmental and epileptic encephalopathy
Health Risk
RS2123205373
Conflicting classifications of pathogenicity
Developmental and epileptic encephalopathy, Seizure, Global developmental delay
Health Risk
RS2514853132
Conflicting classifications of pathogenicity
Congenital myasthenic syndrome 18, Inborn genetic diseases, Congenital myasthenic syndrome 18
Health Risk
RS577791521
Conflicting classifications of pathogenicity
Congenital myasthenic syndrome 18, Inborn genetic diseases, Congenital myasthenic syndrome 18
Health Risk
RS745741842
Conflicting classifications of pathogenicity
Congenital myasthenic syndrome 18, SNAP25-related disorder, Congenital myasthenic syndrome 18
Health Risk
RS763898355
Conflicting classifications of pathogenicity
Congenital myasthenic syndrome 18, Congenital myasthenic syndrome 18
Health Risk
RS1600807788
Likely pathogenic
Congenital myasthenic syndrome 18, Congenital myasthenic syndrome 18
Health Risk
RS2064355122
Likely pathogenic
Congenital myasthenic syndrome 18, Developmental and epileptic encephalopathy, SNAP25-related early-onset developmental and epileptic encephalopathy
Health Risk
RS2064355563
Likely pathogenic
Congenital myasthenic syndrome 18, Developmental and epileptic encephalopathy, SNAP25 related neurodevelopmental disorder
Health Risk
RS2123003858
Likely pathogenic
Developmental and epileptic encephalopathy, Developmental and epileptic encephalopathy
Health Risk
RS2123019421
Likely pathogenic
Developmental and epileptic encephalopathy, Developmental and epileptic encephalopathy
Health Risk
RS2123063802
Likely pathogenic
Global developmental delay, Developmental and epileptic encephalopathy, Global developmental delay
Health Risk
All Variants (30)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2064035939 | Health Risk | Conflicting classifications of pathogenicity | Developmental and epileptic encephalopathy, Developmental and epileptic encephalopathy |
| RS2123205373 | Health Risk | Conflicting classifications of pathogenicity | Developmental and epileptic encephalopathy, Seizure, Global developmental delay |
| RS2514853132 | Health Risk | Conflicting classifications of pathogenicity | Congenital myasthenic syndrome 18, Inborn genetic diseases, Congenital myasthenic syndrome 18 |
| RS577791521 | Health Risk | Conflicting classifications of pathogenicity | Congenital myasthenic syndrome 18, Inborn genetic diseases, Congenital myasthenic syndrome 18 |
| RS745741842 | Health Risk | Conflicting classifications of pathogenicity | Congenital myasthenic syndrome 18, SNAP25-related disorder, Congenital myasthenic syndrome 18 |
| RS763898355 | Health Risk | Conflicting classifications of pathogenicity | Congenital myasthenic syndrome 18, Congenital myasthenic syndrome 18 |
| RS1600807788 | Health Risk | Likely pathogenic | Congenital myasthenic syndrome 18, Congenital myasthenic syndrome 18 |
| RS2064355122 | Health Risk | Likely pathogenic | Congenital myasthenic syndrome 18, Developmental and epileptic encephalopathy, SNAP25-related early-onset developmental and epileptic encephalopathy |
| RS2064355563 | Health Risk | Likely pathogenic | Congenital myasthenic syndrome 18, Developmental and epileptic encephalopathy, SNAP25 related neurodevelopmental disorder |
| RS2123003858 | Health Risk | Likely pathogenic | Developmental and epileptic encephalopathy, Developmental and epileptic encephalopathy |
| RS2123019421 | Health Risk | Likely pathogenic | Developmental and epileptic encephalopathy, Developmental and epileptic encephalopathy |
| RS2123063802 | Health Risk | Likely pathogenic | Global developmental delay, Developmental and epileptic encephalopathy, Global developmental delay |
| RS2123063984 | Health Risk | Likely pathogenic | Developmental and epileptic encephalopathy, Developmental and epileptic encephalopathy |
| RS2123120184 | Health Risk | Likely pathogenic | Developmental and epileptic encephalopathy, Congenital myasthenic syndrome 18, Developmental and epileptic encephalopathy |
| RS2123159234 | Health Risk | Likely pathogenic | Developmental and epileptic encephalopathy, Congenital myasthenic syndrome 18, Developmental and epileptic encephalopathy |
| RS2123159261 | Health Risk | Likely pathogenic | Developmental and epileptic encephalopathy, Developmental and epileptic encephalopathy |
| RS2123159470 | Health Risk | Likely pathogenic | Developmental and epileptic encephalopathy, Congenital myasthenic syndrome 18, Developmental and epileptic encephalopathy |
| RS2123159524 | Health Risk | Likely pathogenic | Developmental and epileptic encephalopathy, Developmental and epileptic encephalopathy |
| RS2123205099 | Health Risk | Likely pathogenic | Developmental and epileptic encephalopathy, Developmental and epileptic encephalopathy |
| RS2514785213 | Health Risk | Likely pathogenic | Congenital myasthenic syndrome 18, Congenital myasthenic syndrome 18 |
| RS2514833199 | Health Risk | Likely pathogenic | Presynaptic congenital myasthenic syndrome, Presynaptic congenital myasthenic syndrome |
| RS2514853315 | Health Risk | Likely pathogenic | Congenital myasthenic syndrome 18, Congenital myasthenic syndrome 18 |
| RS2514853517 | Health Risk | Likely pathogenic | Congenital myasthenic syndrome 18, Congenital myasthenic syndrome 18 |
| RS2514853554 | Health Risk | Likely pathogenic | Congenital myasthenic syndrome 18, Congenital myasthenic syndrome 18 |
| RS797044873 | Health Risk | Likely pathogenic | Unilateral Hypotonia, Epilepsy with generalized tonic-clonic seizures, Focal epilepsy |
| RS2123205311 | Health Risk | Pathogenic | Congenital myasthenic syndrome 18, Developmental and epileptic encephalopathy, Developmental and epileptic encephalopathy |
| RS2514853451 | Health Risk | Pathogenic | Congenital myasthenic syndrome 18, Congenital myasthenic syndrome 18 |
| RS1555794286 | Health Risk | Pathogenic/Likely pathogenic | Congenital myasthenic syndrome 18, Developmental and epileptic encephalopathy, Inborn genetic diseases |
| RS2123063830 | Health Risk | Pathogenic/Likely pathogenic | Developmental and epileptic encephalopathy, SNAP25-related developmental delays and epileptic encephalopathies, Inborn genetic diseases |
| RS2123120544 | Health Risk | Pathogenic/Likely pathogenic | Developmental and epileptic encephalopathy, Congenital myasthenic syndrome 18, Developmental and epileptic encephalopathy |