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COVID-19 research

Gene: IL6ST

Green List (high evidence)
IL6ST (interleukin 6 signal transducer)
EnsemblGeneIds (GRCh38): ENSG00000134352
EnsemblGeneIds (GRCh37): ENSG00000134352
OMIM: 600694, Gene2Phenotype
IL6ST is in 4 panels

3 reviews

Sophie Hambleton (Newcastle University)

Green List (high evidence)

Dominant negative mutations cause hyper-IgE syndrome, see PMID 32207811
Created: 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

Created: 1 May 2020, 10:54 a.m.
Last Modified: 1 May 2020, 10:54 a.m.
Panel version: 0.171

Louise Daugherty (Genomics England Curator)

I don't know

Added publication referenced by IUIS december 2019 update
Created: 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 review
Created: 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

Created: 22 Jan 2020, 11:36 a.m.
Last Modified: 22 Jan 2020, 11:36 a.m.
Panel version: Imported from Primary immunodeficiency panel version 2.36

Owen Siggs (Flinders University)

Green List (high evidence)

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

Created: 18 Jan 2020, 7:44 a.m.
Last Modified: 18 Jan 2020, 7:44 a.m.
Panel version: Imported from Primary immunodeficiency panel version 2.0

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • IUIS Classification December 2019
  • Literature
  • IUIS Classification December 2019
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
OMIM
600694
Clinvar variants
Variants in IL6ST
Penetrance
None
Publications
Panels with this gene

History Filter Activity

5 May 2020, Gel status: 3

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: IL6ST were set to 31235509; 32086639; 30309848; 28747427; 32048120

2 Apr 2020, Gel status: 3

Added New Source, Set Phenotypes, Status Update

Ellen McDonagh (Genomics England Curator)

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)

1 Apr 2020, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Ellen McDonagh (Genomics England Curator)

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