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DDG2P

Gene: STX1B

Amber List (moderate evidence)

STX1B (syntaxin 1B)
EnsemblGeneIds (GRCh38): ENSG00000099365
EnsemblGeneIds (GRCh37): ENSG00000099365
OMIM: 601485, Gene2Phenotype
STX1B is in 5 panels

1 review

Rebecca Foulger (Genomics England curator)

I don't know

Original DDG2P rating: probable.
Created: 19 Nov 2018, 11:31 a.m.

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Amber
Phenotypes
  • GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 9 616172
OMIM
601485
Clinvar variants
Variants in STX1B
Penetrance
None
Publications
Panels with this gene

History Filter Activity

29 Jan 2019, Gel status: 2

Panel promoted to version 1.0

Rebecca Foulger (Genomics England curator)

Rebecca Foulger: Original DDG2P rating: probabl

19 Nov 2018, Gel status: 2

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Rebecca Foulger (Genomics England curator)

gene: STX1B was added gene: STX1B was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: STX1B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: STX1B were set to 25362483 Phenotypes for gene: STX1B were set to GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 9 616172