Genomics England
GMS Panels
Panels
Genes and Entities

SYT2

synaptotagmin 2
OMIM: 600104
PanelMode of inheritanceDetails
2 panels
Green
in Congenital myaesthenic syndrome
Component of the following Super Panels:
  • - Hypotonic infant
  • - Other rare neuromuscular disorders
R-numbers: R80
Signed-off version 4.5
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Myasthenic syndrome, congenital, 7, presynaptic, OMIM:616040
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 3.79
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
SYT2-related congenital onset presynaptic myasthenic syndrome