Genomics England
GMS Panels
Panels
Genes and Entities

STXBP1

syntaxin binding protein 1
OMIM: 602926
PanelMode of inheritanceDetails
3 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 5.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
EPILEPTIC ENCEPHALOPATHY EARLY INFANTILE TYPE 4 612164, ANGELMAN/PITT HOPKINS SYNDROME-LIKE DISORDER
Green
in Early onset or syndromic epilepsy
Component of the following Super Panels:
  • - Paediatric disorders
  • - Unexplained death in infancy and sudden unexplained death in childhood
R-numbers: R59
Signed-off version 7.0
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Developmental and epileptic encephalopathy 4, OMIM:612164
Green
in Intellectual disability
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 8.0
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Developmental and epileptic encephalopathy 4, OMIM:612164, developmental and epileptic encephalopathy, 4, MONDO:0012812