Genomics England
GMS Panels
Panels
Genes and Entities

SYT1

synaptotagmin 1
OMIM: 185605
PanelMode of inheritanceDetails
3 panels
Green
in Childhood onset dystonia, chorea or related movement disorder
R-numbers: R57
Signed-off version 5.4
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Baker-Gordon syndrome MIM#618218
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 4.15
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
INTELLECTUAL DISABILITY
Green
in Intellectual disability
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 7.51
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
INTELLECTUAL DISABILITY, SYT1-associated neurodevelopmental disorder