COVID-19 research
Gene: IL6ST
Dominant negative mutations cause hyper-IgE syndrome, see PMID 32207811Created: 1 May 2020, 10:54 a.m. | Last Modified: 1 May 2020, 10:54 a.m.
Panel Version: 0.171
Mode of inheritance
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Phenotypes
recurrent infections; eczema; bronchiectasis; high IgE; eosinophilia; defective B cell memory; impaired acute-phase response; stuve-wiedemann syndrome; craniosynostosis
Publications
Added publication referenced by IUIS december 2019 updateCreated: 28 Feb 2020, 8:49 p.m. | Last Modified: 28 Feb 2020, 8:49 p.m.
Panel Version: 2.36
Comment on list classification: New gene added for reviewCreated: 26 Feb 2020, 4:30 p.m. | Last Modified: 26 Feb 2020, 4:30 p.m.
Panel Version: 2.5
New gene suggested by expert reviewer- unable to do a full curational review (Green rating recommended) as we are waiting for new PanelApp features before this gene can be added to this GMS panel.Created: 22 Jan 2020, 11:36 a.m. | Last Modified: 22 Jan 2020, 11:36 a.m.
Panel Version: 2.0
Publications
At least two unrelated cases with homozygous loss-of-function variants and compelling functional support.Created: 18 Jan 2020, 7:44 a.m. | Last Modified: 18 Jan 2020, 7:44 a.m.
Panel Version: 2.0
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Hyper-IgE syndrome
Publications
Publications for gene: IL6ST were set to 31235509; 32086639; 30309848; 28747427; 32048120
Source Expert Review Green was added to IL6ST. Added 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 for gene: IL6ST Rating Changed from Red List (low evidence) to Green List (high evidence)
gene: IL6ST was added gene: IL6ST was added to Viral susceptibility. Sources: Expert Review Red,Literature,IUIS Classification December 2019 Mode of inheritance for gene: IL6ST was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: IL6ST were set to 31235509; 32086639; 30309848; 28747427; 32048120 Phenotypes for gene: IL6ST were set to 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