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STRs in panel
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COVID-19 research

Gene: STXBP2

Green List (high evidence)

STXBP2 (syntaxin binding protein 2)
EnsemblGeneIds (GRCh38): ENSG00000076944
EnsemblGeneIds (GRCh37): ENSG00000076944
OMIM: 601717, Gene2Phenotype
STXBP2 is in 9 panels

5 reviews

Ivone Leong (Genomics England Curator)

Green List (high evidence)

IUIS: Inheritance - AR/AD (causes STXBP2/Munc182 deficiency (FHL5))
Created: 15 Apr 2020, 12:09 p.m. | Last Modified: 15 Apr 2020, 12:09 p.m.
Panel Version: 0.103

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Publications

Kimberly Gilmour (Great Ormond Street Hopsital)

Green List (high evidence)

agree with green gene
Created: 17 Sep 2019, 3:18 p.m. | Last Modified: 17 Sep 2019, 3:18 p.m.
Panel Version: 1.94

Tracy Briggs (Manchester Genomic Medicine Centre)

Green List (high evidence)

YES- this is covered on our targeted exome
Created: 17 Sep 2019, 3:18 p.m. | Last Modified: 17 Sep 2019, 3:18 p.m.
Panel Version: 1.94

Sophie Hambleton (Newcastle University)

Green List (high evidence)

Louise Daugherty (Genomics England Curator)

Green List (high evidence)

Gene rating submitted by Kimberly Gilmour and Austen Worth on behalf of London North GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email 6th September the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Created: 17 Sep 2019, 3:18 p.m. | Last Modified: 17 Sep 2019, 3:18 p.m.
Panel Version: 1.94
Gene rating submitted by Tracy Briggs, David Gokhale and Abigal Rousseau on behalf of North West GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email on 20th June the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Created: 17 Sep 2019, 3:18 p.m. | Last Modified: 17 Sep 2019, 3:18 p.m.
Panel Version: 1.94
OriginaI Metadata from IUIS classification table (February, 2018) downloaded 20180614. IUIS Genetic defect (original gene symbol in IUIS download): STXBP2 .PanelApp HGNC gene symbol check: STXBP2 . IUIS Disease: STXBP2 / Munc18-2 deficiency (FHL5) . IUIS Inheritance: AR or AD .T cells: N/A, .B cells: Normal, .IUIS Other affected cells: N/A. IUIS Associated features: Fever, HSM, cHLH, cytopenias, enteropathy. IUIS Major category: Diseases of Immune Dysregulation. IUIS Subcategory: Familial Hemophagocytic Lymphohistiocytosis (FHL syndromes)
Created: 2 Jul 2018, 10:35 a.m.
from GeneReview PMID:20301617: 16% in Central Europeans, Turks, and Saudis (PMID:19804848) and approx 20% in North Americans with FHL PMID:20301617 are FHL5.
Created: 30 Apr 2018, 11:12 a.m.
Changed status from Amber to Green, there are more than 3 unrelated cases to support the phenotype Familial hemophagocytic lymphohistiocytosis-5 (FHL5)caused by homozygous or compound heterozygous mutation in the syntaxin-binding protein-2 gene (STXBP2). From OMIM Publications include: 8 unrelated probands with familial hemophagocytic lymphohistiocytosis (FHL) mapped to STXBP2 in 2 Saudi Arabian and 6 Turkish consanguineous families, zur Stadt et al. (2009) PMID:19804848 sequenced the candidate gene STXBP2 and identified homozygous mutations in STXBP2 in all 8 patients. Also, in affected members of 6 consanguineous families Cote et al. (2009) PMID: 19884660 sequenced the STXBP2 gene and identified homozygosity for the P477L mutation (601717.0001) in 3 Saudi Arabian families and for the IVS14 splice site mutation (601717.0003) in 3 families of Turkish, Palestinian Arab, and Iranian origin, respectively. In PMID: 20798128 Cetica et al. (2010) analyzed the STXBP2 gene in 28 FHL families in which mutations in known FHL genes had been excluded by sequence analysis, and identified homozygosity for 4 different missense mutations in the STXBP2 gene in 4 (14%) of the 28 families, originating from Italy, England, Kuwait, and Pakistan, respectively.
Created: 30 Apr 2018, 11:09 a.m.
Comment on publications: Added publications to support role of STXBP2 variants in Hemophagocytic lymphohistiocytosis, familial, 5
Created: 30 Apr 2018, 10:59 a.m.
From OMIM Familial hemophagocytic lymphohistiocytosis-5 (FHL5) is caused by homozygous or compound heterozygous mutation in the syntaxin-binding protein-2 gene (STXBP2; 601717) on chromosome 19p13.
Created: 30 Apr 2018, 10:55 a.m.
Comment on phenotypes: added OMIM MIMid and synonyms
Created: 30 Apr 2018, 10:49 a.m.
This gene was absent from the original PanelApp PID panel dataset (review April 2018). However it was listed in external expert immunodeficiency diagnostic gene list(s)
GOSH or GRID. In this combined PID panel, this gene has been rated as AMBER and needs further curational review to assess pertinence prior to v1.
Created: 19 Apr 2018, 1:59 p.m.
Original metadata downloaded from ESID Registry. ESID_Gene_original: STXBP2 (Munc 18-2), PanelApp HGNC gene symbol check: STXBP2, ESID classification: Main_category/ Sub_category/ PID_Diagnosis Diseases of immune dysregulation / Hemophagocytic Lymphohistiocytosis (HLH) / Familial hemophagocytic lymphohistiocytosis syndromes (FHLH)
Created: 17 Apr 2018, 12:29 p.m.
Original metadata supplied by GRID. GRID Gene Symbol HGNC PanelApp check: STXBP2, GRID_Gene_Symbol: STXBP2, GRID_Transcript_ENS_Community submitted: ENST00000221283, GRID_Transcript_RefSeq: NM_006949.2, GRID_Transcript_ENS_used_on_Production: ENST00000221283
Created: 17 Apr 2018, 12:12 p.m.

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • IUIS Classification December 2030
Phenotypes
  • Hemophagocytic lymphohistiocytosis, familial 5, 613101
  • Diseases of Immune Dysregulation
  • Fever, HSM, cHLH, cytopenias, enteropathy
  • FHL5
  • Familial hemophagocytic lymphohistiocytosis syndromes (FHLH)
OMIM
601717
Clinvar variants
Variants in STXBP2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

15 Apr 2020, Gel status: 3

Added New Source, Set mode of inheritance

Ivone Leong (Genomics England Curator)

Source IUIS Classification December 2030 was added to STXBP2. Mode of inheritance for gene STXBP2 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

1 Apr 2020, Gel status: 3

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

Ellen McDonagh (Genomics England Curator)

gene: STXBP2 was added gene: STXBP2 was added to Viral susceptibility. Sources: Expert Review Green,ESID Registry 20171117,North West GLH,Victorian Clinical Genetics Services,GRID V2.0,NHS GMS,GOSH PID v.8.0,London North GLH,IUIS Classification February 2018 Mode of inheritance for gene: STXBP2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: STXBP2 were set to 19804848; 19884660; 20301617; 20798128 Phenotypes for gene: STXBP2 were set to Hemophagocytic lymphohistiocytosis, familial 5, 613101; Diseases of Immune Dysregulation; Fever, HSM, cHLH, cytopenias, enteropathy; FHL5; Familial hemophagocytic lymphohistiocytosis syndromes (FHLH)