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 1.146	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 Level 2: Immunology Version 8.78 Latest signed off version: v8.0 (30 Apr 2025)	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green IUIS Classification December 2019 Literature Phenotypes Hyper-IgE syndrome 4A, autosomal dominant, with recurrent infections, OMIM:619752 ?Immunodeficiency 94 with autoinflammation and dysmorphic facies, OMIM:619750 Hyper-IgE syndrome 4B, autosomal recessive, with recurrent infections, OMIM:618523 Stuve-Wiedemann syndrome 2, OMIM:619751
Green IL6ST in Rare syndromic craniosynostosis or isolated multisuture synostosis Level 2: Musculoskeletal Version 6.3 Latest signed off version: v6.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Literature Phenotypes Hyper-IgE recurrent infection syndrome 4B, autosomal recessive, OMIM:618523