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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

Andrew Coventry (Victorian Clinical Genetics Services)

Green List (high evidence)

Established gene-disease association - definitive in ClinGen.

Childhood onset, hyperinflammatory disorder characterised clinically by fever, hepatosplenomegaly, pancytopenia, coagulation abnormalities, and other laboratory findings. Some patients have neurologic symptoms due to inflammatory CNS disease. The phenotype is variable: some patients may present in early infancy with severe diarrhoea, prior to the onset of typical features, whereas others present later in childhood and have a more protracted course. More variable features include sensorineural hearing loss and hypogammaglobulinemia.
Created: 12 Dec 2024, 1:08 a.m. | Last Modified: 12 Dec 2024, 1:08 a.m.
Panel Version: 1.633

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Hemophagocytic lymphohistiocytosis, familial, 5, with or without microvillus inclusion disease MIM#613101

Publications

Created: 12 Dec 2024, 1:08 a.m.
Last Modified: 12 Dec 2024, 1:08 a.m.
Panel version: 1.633

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Haemophagocytic lymphohistiocytosis, familial, 5, with or without microvillus inclusion disease MIM#613101
OMIM
601717
Clinvar variants
Variants in STXBP2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

13 Dec 2024, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: stxbp2 has been classified as Green List (High Evidence).

13 Dec 2024, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: STXBP2 were changed from Hemophagocytic lymphohistiocytosis, familial, 5, 613101 (3) to Haemophagocytic lymphohistiocytosis, familial, 5, with or without microvillus inclusion disease MIM#613101

13 Dec 2024, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: STXBP2 were set to

2 Nov 2023, Gel status: 3

Set Phenotypes

Seb Lunke (Victorian Clinical Genetics Services)

Added phenotypes Hemophagocytic lymphohistiocytosis, familial, 5, 613101 (3) for gene: STXBP2

1 Jun 2022, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: STXBP2 was added gene: STXBP2 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: STXBP2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: STXBP2 were set to Hemophagocytic lymphohistiocytosis, familial, 5, 613101 (3)