Genomics England
GMS Panels
Panels
Genes and Entities

SYT2

synaptotagmin 2
OMIM: 600104
PanelMode of inheritanceDetails
3 panels
Green
in Congenital myaesthenic syndrome
Component of the following Super Panels:
  • - Hypotonic infant
  • - Other rare neuromuscular disorders
R-numbers: R80
Signed-off version 4.6
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 4.6
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
SYT2-related congenital onset presynaptic myasthenic syndrome
Green
in Hereditary neuropathy or pain disorder
R-numbers: R78
Signed-off version 5.0
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Myasthenic syndrome, congenital, 7A, presynaptic, and distal motor neuropathy, autosomal dominant, OMIM:616040