STX11

syntaxin 11
OMIM: 605014, Gene2Phenotype

6 panels

Panel Reviews Mode of inheritance Details
6 panels
Green STX11 in COVID-19 research


Level 2: Viral research
Version 1.146

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • IUIS Classification February 2018
  • London North GLH
  • GOSH PID v.8.0
  • NHS GMS
  • GRID V2.0
  • Victorian Clinical Genetics Services
  • North West GLH
  • ESID Registry 20171117
  • Expert Review Green
  • NHS GMS
  • North West GLH
  • London North GLH
  • IUIS Classification February 2018
  • Victorian Clinical Genetics Services
  • Expert Review Green
  • ESID Registry 20171117
  • GRID V2.0
  • GOSH PID v.8.0
Phenotypes
  • HLH4
  • Hemophagocytic lymphohistiocytosis, familial 4, 603552
  • Diseases of Immune Dysregulation
  • Familial hemophagocytic lymphohistiocytosis syndromes (FHLH)
  • FHL4
  • HPLH4
  • Fever, HSM, cHLH, cytopenias,
Green STX11 in Primary immunodeficiency or monogenic inflammatory bowel disease


Level 2: Immunology
Version 8.78
Latest signed off version: v8.0 (30 Apr 2025)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Other
  • NHS GMS
  • North West GLH
  • London North GLH
  • IUIS Classification February 2018
  • Victorian Clinical Genetics Services
  • ESID Registry 20171117
  • GRID V2.0
  • GOSH PID v.8.0
Phenotypes
  • Hemophagocytic lymphohistiocytosis, familial 4, 603552
  • FHL4
  • Familial hemophagocytic lymphohistiocytosis syndromes (FHLH)
  • HPLH4
  • HLH4
  • Fever, HSM, cHLH, cytopenias,
  • Diseases of Immune Dysregulation
Tags
  • early-onset
Amber STX11 in Haematological malignancies cancer susceptibility


Level 2: Cancer susceptibility
Version 4.37
Latest signed off version: v4.0 (22 Mar 2023)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
  • Expert list
Phenotypes
  • Hemophagocytic lymphohistiocytosis, familial, 4 603552
Red STX11 in Bleeding and platelet disorders


Level 2: Haematology
Version 4.6
Latest signed off version: v4.0 (30 Apr 2025)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • North West GLH
  • NHS GMS
  • Wessex and West Midlands GLH
Amber STX11 in Fetal anomalies


Level 2: Fetal (including NIPD)
Version 6.140
Latest signed off version: v6.0 (30 Apr 2025)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • Haemophagocytic lymphohistiocytosis, familial, 4, OMIM:603552
Red STX11 in Intellectual disability


Level 2: Developmental disorders
Version 9.285
Latest signed off version: v9.0 (30 Apr 2025)

Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders
  • review Not set
    Sources
    • Victorian Clinical Genetics Services