SNAP25

synaptosome associated protein 25
OMIM: 600322
PanelMode of inheritanceDetails
4 panels
Component of the following Super Panels:
  • - Hereditary ataxia and cerebellar anomalies - childhood onset
Signed-off version 5.0
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
?Myasthenic syndrome, congenital, 18, OMIM:616330, cerebellar ataxia, MONDO:0000437, seizures, HP:0001250
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 4.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Epilepsy and intellectual disability
Component of the following Super Panels:
  • - Paediatric disorders
  • - Unexplained death in infancy and sudden unexplained death in childhood
R-numbers: R59
Signed-off version 5.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
?Myasthenic syndrome, congenital 18, 616330, ?Myasthenic syndrome, congenital, 18
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 6.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
?Myasthenic syndrome, congenital 18, 616330, ?Myasthenic syndrome, congenital, 18, 616330