Genomics England
GMS Panels
Panels
Genes and Entities

SNAP25

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