IL6ST

interleukin 6 signal transducer
OMIM: 600694, Gene2Phenotype

3 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 3 panels
Green IL6ST in COVID-19 research Level 2: Viral research Version 1.142	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 4.202 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 4.180 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