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Fetal anomalies

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

DDG2P rating in original PAGE list: Probable for GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 9
Created: 11 Dec 2018, 9:05 a.m.

Details

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

History Filter Activity

8 Nov 2018, Gel status: 2

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

Rebecca Foulger (Genomics England curator)

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