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SYT2

synaptotagmin 2

HCNC Approved Symbol
SYT2 (HGNC:11510)
Genomic Coordinates
1:202,590,596 - 202,710,454 (1q32.1)
Synonyms
Disease Associations
This gene is associated with the following 2 diseases in OMIM.
View More Disease Info
Disease NameOMIM IDInheritance
Myasthenic syndrome, congenital, 7A, presynaptic, and distal motor neuropathy, autosomal dominant
616040AD
Myasthenic syndrome, congenital, 7B, presynaptic, autosomal recessive
619461AR

Diagnosed Cases

3Patients

In total, 3 patients were diagnosed with a variant in the SYT2 gene.

Frequently observed phenotypes

(Top 5 only, Patient count*)
*% of total patients presenting each phenotype is shown in parentheses.

Foot drop
 1 (33.3%)
Hyporeflexia
 1 (33.3%)
Lower limb weakness
 1 (33.3%)
Peripheral sensory axonal neuropathy
 1 (33.3%)
Axonal sensory neuropathy
 1 (33.3%)