1. Panels
  2. Disorders of immune dysregulation
  3. STXBP2
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Disorders of immune dysregulation

Gene: STXBP2

Green List (high evidence)
STXBP2 (syntaxin binding protein 2)
EnsemblGeneIds (GRCh38): ENSG00000076944
EnsemblGeneIds (GRCh37): ENSG00000076944
OMIM: 601717, Gene2Phenotype
STXBP2 is in 12 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Well established gene-disease association.
Created: 23 Mar 2022, 5:22 a.m. | Last Modified: 23 Mar 2022, 5:22 a.m.
Panel Version: 0.11808

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Haemophagocytic lymphohistiocytosis, familial, 5, with or without microvillus inclusion disease 613101

Publications

Created: 23 Mar 2022, 5:22 a.m.
Last Modified: 23 Mar 2022, 5:22 a.m.
Panel version: Imported from Mendeliome panel version 0.11808

Details

Mode of Inheritance
Unknown
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Immunology Flagship
  • Victorian Clinical Genetics Services
  • Expert Review Green
  • Victorian Clinical Genetics Services
OMIM
601717
Clinvar variants
Variants in STXBP2
Penetrance
None
Panels with this gene

History Filter Activity

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: STXBP2 was added gene: STXBP2 was added to Disorders of immune dysregulation_MGHA_AGHA_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Immunology Flagship Mode of inheritance for gene: STXBP2 was set to Unknown