SYT1 Chromosome 12
Synaptotagmin 1
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What This Gene Does
This gene encodes a member of the synaptotagmin protein family. The synaptotagmins are integral membrane proteins of synaptic vesicles that serve as calcium sensors in the process of vesicular trafficking and exocytosis. The encoded protein participates in triggering neurotransmitter release at the synapse in response to calcium binding. Mutations in this gene are associated with Baker-Gordon syndrome. [provided by RefSeq, Jan 2023]
Gene Info
Gene Group
"Synaptotagmins|MicroRNA protein coding host genes"
Locus Type
gene with protein product
Location
12q21.2
Ensembl
ENSG00000067715
Associated Conditions (5)
Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome
Inborn genetic diseases
Neurodevelopmental disorder
SYT1-associated neurodevelopmental disorder
Syndromic intellectual disability
Key Variants
RS1882993257
Conflicting classifications of pathogenicity
Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome, Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome
Health Risk
RS1555226395
Likely pathogenic
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1593076474
Likely pathogenic
Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome, Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome
Health Risk
RS2136211948
Likely pathogenic
Health Risk
RS2138866856
Likely pathogenic
Neurodevelopmental disorder, Neurodevelopmental disorder
Health Risk
RS2547658386
Likely pathogenic
Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome, Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome
Health Risk
RS2547708515
Likely pathogenic
Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome, Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome
Health Risk
RS2547785983
Likely pathogenic
Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome, Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome
Health Risk
RS1377017458
Pathogenic
Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome, Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome
Health Risk
RS1565962725
Pathogenic
Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome, SYT1-associated neurodevelopmental disorder, Syndromic intellectual disability
Health Risk
RS1135402761
Pathogenic/Likely pathogenic
SYT1-associated neurodevelopmental disorder, Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome, Inborn genetic diseases
Health Risk
RS144900171
Pathogenic/Likely pathogenic
SYT1-associated neurodevelopmental disorder, Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome, SYT1-associated neurodevelopmental disorder
Health Risk
All Variants (16)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1882993257 | Health Risk | Conflicting classifications of pathogenicity | Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome, Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome |
| RS1555226395 | Health Risk | Likely pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS1593076474 | Health Risk | Likely pathogenic | Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome, Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome |
| RS2136211948 | Health Risk | Likely pathogenic | — |
| RS2138866856 | Health Risk | Likely pathogenic | Neurodevelopmental disorder, Neurodevelopmental disorder |
| RS2547658386 | Health Risk | Likely pathogenic | Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome, Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome |
| RS2547708515 | Health Risk | Likely pathogenic | Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome, Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome |
| RS2547785983 | Health Risk | Likely pathogenic | Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome, Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome |
| RS1377017458 | Health Risk | Pathogenic | Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome, Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome |
| RS1565962725 | Health Risk | Pathogenic | Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome, SYT1-associated neurodevelopmental disorder, Syndromic intellectual disability |
| RS1135402761 | Health Risk | Pathogenic/Likely pathogenic | SYT1-associated neurodevelopmental disorder, Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome, Inborn genetic diseases |
| RS144900171 | Health Risk | Pathogenic/Likely pathogenic | SYT1-associated neurodevelopmental disorder, Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome, SYT1-associated neurodevelopmental disorder |
| RS1565922388 | Health Risk | Pathogenic/Likely pathogenic | SYT1-associated neurodevelopmental disorder, Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome, SYT1-associated neurodevelopmental disorder |
| RS1565922395 | Health Risk | Pathogenic/Likely pathogenic | SYT1-associated neurodevelopmental disorder, Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome, SYT1-associated neurodevelopmental disorder |
| RS2136007588 | Health Risk | Pathogenic/Likely pathogenic | Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome, Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome |
| RS2136007608 | Health Risk | Pathogenic/Likely pathogenic | Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome, Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome |