Gene symbol and protein | Gene Location | All allelic disease phenotypes - locus/disease symbols |
SYT2 Synaptotagmin II       | 1q32.1 | * Distal motor neuropathy related to SYT2 - (11.14, 11.15, 12.45)* Myasthenic syndrome, presynaptic, congenital, with or without motor neuropathy - MYSPC (11.14, 11.15, 12.45)* Myasthenic syndrome, congenital, 7, presynaptic and distal motor neuropathy, autosomal dominant - CMS7A (11.14, 11.15, 12.45)* Myasthenic syndrome, congenital, 7B, presynaptic - CMS7B (11.14, 11.15, 12.45) |