Genomics England
GMS Panels
Panels
Genes and Entities

SNAP25

synaptosome associated protein 25
OMIM: 600322
PanelMode of inheritanceDetails
2 panels
Green
in Genetic epilepsy syndromes
R-numbers: R59
Signed-off version 3.1
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
?Myasthenic syndrome, congenital 18, 616330, ?Myasthenic syndrome, congenital, 18
Green
in Intellectual disability
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R29
Signed-off version 4.4
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
?Myasthenic syndrome, congenital 18, 616330, ?Myasthenic syndrome, congenital, 18, 616330