IL6ST

interleukin 6 signal transducer
OMIM: 600694, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels
Green IL6ST in COVID-19 research


Level 2: Viral research
Version 1.141

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • IUIS Classification December 2019
  • Literature
  • IUIS Classification December 2019
  • Literature
Phenotypes
  • Eczema
  • Abnormal acute-phase responses
  • Recurrent infections
  • Bacterial infections, boiles, eczema, pulmonary abscesses, pneumatoceles, bone fractures, scoliosis, retention of primary teeth, craniosynostosis
  • Eosinophilia
  • Elevated IgE
  • Combined immunodeficiencies with associated or syndromic features
Green IL6ST in Primary immunodeficiency or monogenic inflammatory bowel disease


Version 4.191
Latest signed off version: v4.0 (22 Mar 2023)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • IUIS Classification December 2019
  • Literature
Phenotypes
  • Hyper-IgE recurrent infection syndrome 4, autosomal recessive 618523
  • Stuve-Wiedemann-like syndrome: skeletal dysplasia, neonatal lung dysfunction, thrombocytopenia, dermatitis, defective acute-phase response.
  • Hyper-IgE syndrome, autosomal dominant
Green IL6ST in Rare syndromic craniosynostosis or isolated multisuture synostosis

Level 3: Craniosynostosis syndromes
Level 2: Skeletal disorders
Version 4.177
Latest signed off version: v4.0 (22 Mar 2023)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
  • Literature
Phenotypes
  • Hyper-IgE recurrent infection syndrome 4B, autosomal recessive, OMIM:618523