SYT2 Chromosome 1
Synaptotagmin 2
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What This Gene Does
This gene encodes a synaptic vesicle membrane protein. The encoded protein is thought to function as a calcium sensor in vesicular trafficking and exocytosis. Mutations in this gene are associated with myasthenic syndrome, presynaptic, congenital, with or without motor neuropathy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2014]
Gene Info
Gene Group
Synaptotagmins
Locus Type
gene with protein product
Location
1q32.1
Ensembl
ENSG00000143858
Associated Conditions (10)
Congenital myasthenic syndrome 7
Inborn genetic diseases
Muscle weakness
Respiratory distress
SYT2-related disorder
Myasthenic syndrome
congenital
7B
presynaptic
autosomal recessive
Key Variants
RS142804180
Conflicting classifications of pathogenicity
Health Risk
RS1690515734
Conflicting classifications of pathogenicity
Congenital myasthenic syndrome 7, Congenital myasthenic syndrome 7
Health Risk
RS199582045
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS587777782
Conflicting classifications of pathogenicity
Congenital myasthenic syndrome 7, Inborn genetic diseases, Congenital myasthenic syndrome 7
Health Risk
RS752537599
Conflicting classifications of pathogenicity
Health Risk
RS780359132
Conflicting classifications of pathogenicity
Health Risk
RS1057518805
Likely pathogenic
Muscle weakness, Respiratory distress, Muscle weakness
Health Risk
RS1690455297
Likely pathogenic
Health Risk
RS1690636110
Likely pathogenic
SYT2-related disorder, SYT2-related disorder
Health Risk
RS2149066990
Likely pathogenic
Health Risk
RS2526974512
Likely pathogenic
Congenital myasthenic syndrome 7, Congenital myasthenic syndrome 7
Health Risk
RS2526989632
Likely pathogenic
Myasthenic syndrome, congenital, 7B
Health Risk
All Variants (21)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS142804180 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS1690515734 | Health Risk | Conflicting classifications of pathogenicity | Congenital myasthenic syndrome 7, Congenital myasthenic syndrome 7 |
| RS199582045 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS587777782 | Health Risk | Conflicting classifications of pathogenicity | Congenital myasthenic syndrome 7, Inborn genetic diseases, Congenital myasthenic syndrome 7 |
| RS752537599 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS780359132 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS1057518805 | Health Risk | Likely pathogenic | Muscle weakness, Respiratory distress, Muscle weakness |
| RS1690455297 | Health Risk | Likely pathogenic | — |
| RS1690636110 | Health Risk | Likely pathogenic | SYT2-related disorder, SYT2-related disorder |
| RS2149066990 | Health Risk | Likely pathogenic | — |
| RS2526974512 | Health Risk | Likely pathogenic | Congenital myasthenic syndrome 7, Congenital myasthenic syndrome 7 |
| RS2526989632 | Health Risk | Likely pathogenic | Myasthenic syndrome, congenital, 7B |
| RS1690318147 | Health Risk | Pathogenic | Congenital myasthenic syndrome 7, Congenital myasthenic syndrome 7 |
| RS2149063864 | Health Risk | Pathogenic | Myasthenic syndrome, congenital, 7B |
| RS2149063996 | Health Risk | Pathogenic | Congenital myasthenic syndrome 7, Congenital myasthenic syndrome 7 |
| RS2149064005 | Health Risk | Pathogenic | Congenital myasthenic syndrome 7, Congenital myasthenic syndrome 7 |
| RS2149067131 | Health Risk | Pathogenic | Myasthenic syndrome, congenital, 7B |
| RS2149068434 | Health Risk | Pathogenic | Myasthenic syndrome, congenital, 7B |
| RS2149069543 | Health Risk | Pathogenic | Myasthenic syndrome, congenital, 7B |
| RS2526969474 | Health Risk | Pathogenic | — |
| RS587777781 | Health Risk | Pathogenic | Congenital myasthenic syndrome 7, Congenital myasthenic syndrome 7 |