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COVID-19 research

Gene: STX11

Green List (high evidence)

STX11 (syntaxin 11)
EnsemblGeneIds (GRCh38): ENSG00000135604
EnsemblGeneIds (GRCh37): ENSG00000135604
OMIM: 605014, Gene2Phenotype
STX11 is in 6 panels

4 reviews

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): STX11 .PanelApp HGNC gene symbol check: STX11 . IUIS Disease: Syntaxin 11 deficiency (FHL4) . IUIS Inheritance: AR .T cells: N/A, .B cells: Normal, .IUIS Other affected cells: N/A. IUIS Associated features: Fever, HSM, cHLH, cytopenias, . IUIS Major category: Diseases of Immune Dysregulation. IUIS Subcategory: Familial Hemophagocytic Lymphohistiocytosis (FHL syndromes)
Created: 2 Jul 2018, 10:35 a.m.
added early-onset tag
Created: 30 Apr 2018, 10:36 a.m.
from GeneReview PMID:20301617: Approx ~20% of Turkish/Kurdish families of FHL are FHL4 PMID:15703195, PMID:16278825. Biallelic pathogenic variants identified in other ethnic groups, albeit at a low frequency 8 PMID:20486178.
Created: 30 Apr 2018, 10:35 a.m.
Comment on list classification: Changed status from Amber to Green, there are more than 3 unrelated cases to support the phenotype Familial hemophagocytic lymphohistiocytosis-4 (FHL4) is caused by homozygous mutation in the syntaxin-11 gene (STX11; 605014) on chromosome 6q24. From OMIM Publications include: 3 unrelated Pakistani children with FHL4, each born of consanguineous parents, Muller et al. (2014) PMID: 24459464 identified a homozygous missense mutation in STX11. In a mutation analysis in a group of 63 unrelated patients with FHL of different geographic origins, Zur Stadt et al. (2006) PMID: 15703195 found 6 mutations in the STX11 gene, all in patients of Kurdish origin. Rudd et al. (2006) PMID:16582076 analyzed the STX11 gene in 34 patients with FHL from 28 unrelated families in whom PRF1 mutations had been excluded, they also suggested that STX11 mutations may be associated with secondary malignancies as three of the children experienced more than 1 year in remission without specific treatment, which the authors stated was very uncommon in this disease. Two of the children developed severe psychomotor retardation, one developed acute myelodysplastic syndrome, and one developed acute myelogenous leukemia. They noted that a total of 13 individuals from 8 Turkish families had been shown to carry STX11 mutations
Created: 30 Apr 2018, 10:15 a.m.
Added publications to support role of STX11 variants in Hemophagocytic lymphohistiocytosis, familial, 4
Created: 30 Apr 2018, 10:14 a.m.
from OMIM: Familial hemophagocytic lymphohistiocytosis is an autosomal recessive disease that presents as a severe hyperinflammatory syndrome with activated macrophages and T lymphocytes. Zur Stadt et al. (2005) PMID: 15703195 mapped one form of FHL (FHL4; 603552) to chromosome 6q24 by homozygosity mapping. They identified a 5-bp deletion (605014.0001), a large genomic deletion (605014.0002), and a nonsense mutation (Q268X; 605014.0003) in the STX11 gene, which maps to the 6q24 region.
Created: 30 Apr 2018, 10:11 a.m.
Comment on phenotypes: added OMIM MIMid and synonyms
Created: 30 Apr 2018, 10:06 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, 2:02 p.m.
Original metadata downloaded from ESID Registry. ESID_Gene_original: STX11, PanelApp HGNC gene symbol check: STX11, 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: STX11, GRID_Gene_Symbol: STX11, GRID_Transcript_ENS_Community submitted: ENST00000367568, GRID_Transcript_RefSeq: NM_003764.3, GRID_Transcript_ENS_used_on_Production: ENST00000367568
Created: 17 Apr 2018, 12:12 p.m.

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
Phenotypes
  • HLH4
  • Hemophagocytic lymphohistiocytosis, familial 4, 603552
  • Diseases of Immune Dysregulation
  • Familial hemophagocytic lymphohistiocytosis syndromes (FHLH)
  • FHL4
  • HPLH4
  • Fever, HSM, cHLH, cytopenias,
OMIM
605014
Clinvar variants
Variants in STX11
Penetrance
None
Publications
Panels with this gene

History Filter Activity

1 Apr 2020, Gel status: 3

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

Ellen McDonagh (Genomics England Curator)

gene: STX11 was added gene: STX11 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: STX11 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: STX11 were set to 20301617; 24459464; 16582076; 16278825; 15703195 Phenotypes for gene: STX11 were set to HLH4; Hemophagocytic lymphohistiocytosis, familial 4, 603552; Diseases of Immune Dysregulation; Familial hemophagocytic lymphohistiocytosis syndromes (FHLH); FHL4; HPLH4; Fever, HSM, cHLH, cytopenias,