STX1B:Ensemblv115

syntaxin 1B
OMIM: 601485, ClinGen, DECIPHER

2 panels

Panel Reviews Mode of inheritance Details
2 panels

Green STX1B in Genetic Epilepsy


Level 2: Neurology and neurodevelopmental disorders
Version 2.0

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Australian Genomics Health Alliance Epilepsy Flagship
  • Victorian Clinical Genetics Services
  • Expert Review Green
Phenotypes
  • Generalized epilepsy with febrile seizures plus, type 9, MIM# 616172

Green STX1B in Intellectual disability syndromic and non-syndromic


Level 2: Neurology and neurodevelopmental disorders
Version 2.0

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Genetic Health Queensland
  • Expert Review Green
Phenotypes
  • Generalized epilepsy with febrile seizures plus, type 9, MIM# 616172