SYN1 Chromosome X
Synapsin I
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What This Gene Does
This gene is a member of the synapsin gene family. Synapsins encode neuronal phosphoproteins which associate with the cytoplasmic surface of synaptic vesicles. Family members are characterized by common protein domains, and they are implicated in synaptogenesis and the modulation of neurotransmitter release, suggesting a potential role in several neuropsychiatric diseases. This member of the synapsin family plays a role in regulation of axonogenesis and synaptogenesis. The protein encoded serves as a substrate for several different protein kinases and phosphorylation may function in the regulation of this protein in the nerve terminal. Mutations in this gene may be associated with X-linked disorders with primary neuronal degeneration such as Rett syndrome. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
Synapsins
Locus Type
gene with protein product
Location
Xp11.3-p11.23
Ensembl
ENSG00000008056
Associated Conditions (10)
Epilepsy
X-linked 1
with variable learning disabilities and behavior disorders
Inborn genetic diseases
History of neurodevelopmental disorder
Intellectual disability
X-linked 50
SYN1-related disorder
X-linked complex neurodevelopmental disorder
Seizure
Key Variants
RS1326450802
Conflicting classifications of pathogenicity
Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders
Health Risk
RS1339768860
Conflicting classifications of pathogenicity
Inborn genetic diseases, Epilepsy, X-linked 1
Health Risk
RS138985151
Conflicting classifications of pathogenicity
Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders
Health Risk
RS150248483
Conflicting classifications of pathogenicity
Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders
Health Risk
RS200533370
Conflicting classifications of pathogenicity
Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders
Health Risk
RS2057764630
Conflicting classifications of pathogenicity
Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders
Health Risk
RS2057777813
Conflicting classifications of pathogenicity
Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders
Health Risk
RS2147912133
Conflicting classifications of pathogenicity
Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders
Health Risk
RS370854090
Conflicting classifications of pathogenicity
Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders
Health Risk
RS372445055
Conflicting classifications of pathogenicity
Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders
Health Risk
RS375440874
Conflicting classifications of pathogenicity
Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders
Health Risk
RS41298474
Conflicting classifications of pathogenicity
Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders
Health Risk
All Variants (86)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2057941303 | Health Risk | Pathogenic | Intellectual disability, X-linked 50, Intellectual disability |
| RS2147912005 | Health Risk | Pathogenic | Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders |
| RS2147912165 | Health Risk | Pathogenic | Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders |
| RS2147912440 | Health Risk | Pathogenic | Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders |
| RS2147912678 | Health Risk | Pathogenic | Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders |
| RS2147912740 | Health Risk | Pathogenic | Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders |
| RS2147927599 | Health Risk | Pathogenic | Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders |
| RS2147928664 | Health Risk | Pathogenic | Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders |
| RS2147933505 | Health Risk | Pathogenic | Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders |
| RS2519684553 | Health Risk | Pathogenic | Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders |
| RS2519684728 | Health Risk | Pathogenic | Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders |
| RS2519684825 | Health Risk | Pathogenic | Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders |
| RS2519684932 | Health Risk | Pathogenic | Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders |
| RS2519685103 | Health Risk | Pathogenic | Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders |
| RS2519685183 | Health Risk | Pathogenic | Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders |
| RS2519685402 | Health Risk | Pathogenic | Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders |
| RS2519685812 | Health Risk | Pathogenic | Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders |
| RS2519685837 | Health Risk | Pathogenic | Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders |
| RS2519685866 | Health Risk | Pathogenic | Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders |
| RS2519685918 | Health Risk | Pathogenic | Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders |
| RS2519686818 | Health Risk | Pathogenic | Intellectual disability, X-linked 50, Intellectual disability |
| RS2519686907 | Health Risk | Pathogenic | Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders |
| RS2519705505 | Health Risk | Pathogenic | Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders |
| RS2519706400 | Health Risk | Pathogenic | Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders |
| RS2519712469 | Health Risk | Pathogenic | Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders |
| RS2519712556 | Health Risk | Pathogenic | Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders |
| RS2519712575 | Health Risk | Pathogenic | Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders |
| RS397514679 | Health Risk | Pathogenic | Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders |
| RS753517348 | Health Risk | Pathogenic | Intellectual disability, X-linked 50, Intellectual disability |
| RS757027813 | Health Risk | Pathogenic | Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders |
| RS886042481 | Health Risk | Pathogenic | — |
| RS1183386473 | Health Risk | Pathogenic/Likely pathogenic | Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders |
| RS1556857481 | Health Risk | Pathogenic/Likely pathogenic | Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders |
| RS1556860663 | Health Risk | Pathogenic/Likely pathogenic | Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders |
| RS2057891984 | Health Risk | Pathogenic/Likely pathogenic | Intellectual disability, X-linked 50, Intellectual disability |
| RS2057942403 | Health Risk | Pathogenic/Likely pathogenic | Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders |