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COVID-19 research

Gene: IL6R

Green List (high evidence)

IL6R (interleukin 6 receptor)
EnsemblGeneIds (GRCh38): ENSG00000160712
EnsemblGeneIds (GRCh37): ENSG00000160712
OMIM: 147880, Gene2Phenotype
IL6R is in 2 panels

5 reviews

Arina Puzriakova (Genomics England Curator)

Preprint: Bovijn et al. 2020 - https://doi.org/10.1101/2020.07.17.20155242.
Using a genetic instrument consisting of seven genetic variants in or close to IL6R, authors investigated the effect of these variants on risk of hospitalisation for Covid-19 and other SARS-CoV-2-related outcomes. The IL-6R instrument was associated with lower risk of hospitalisation for Covid-19, but no evidence of association with Covid-19 complicated by death or requiring respiratory support. An association with lower risk of SARS-CoV-2 infection was also found; however, this may be the result of testing bias (e.g. individuals with more severe symptoms may be more likely to present for testing).
The IL6R variants were said to mimic therapeutic inhibition of IL-6R, and therefore authors speculate that pharmacological IL-6R blockade may confer therapeutic benefit to patients with Covid-19.
Created: 29 Jul 2020, 3:39 p.m. | Last Modified: 29 Jul 2020, 3:39 p.m.
Panel Version: 1.66

Sarah Leigh (Genomics England Curator)

Comment on list classification: Associated with relevant phenotype in OMIM, but not associated with phenotype in Gen2Phen. At least 4 variants reported in at least 3 unrelated cases, together with supportive functional studies.
Created: 7 May 2020, 1:07 p.m. | Last Modified: 7 May 2020, 1:07 p.m.
Panel Version: 0.202

Sophie Hambleton (Newcastle University)

Green List (high evidence)

IUIS gene
Created: 1 May 2020, 10:47 a.m. | Last Modified: 1 May 2020, 10:47 a.m.
Panel Version: 0.171

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Impaired humoral immunity; hyper-IgE; recurrent infections; eczema

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, 4:29 p.m. | Last Modified: 26 Feb 2020, 4:29 p.m.
Panel Version: 2.4
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

Owen Siggs (Flinders University)

Green List (high evidence)

Two unrelated cases with homozygous variants (frameshift or missense) and compelling functional evidence.
Sources: Literature
Created: 18 Jan 2020, 7:49 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Recurrent infections; Hyper-IgE; Eczema

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Eczema
  • Recurrent infections
  • Recurrent pyogenic infections, cold abscesses, high circulating IL-6 levels
  • Hyper-IgE
  • Combined immunodeficiencies with associated or syndromic features
OMIM
147880
Clinvar variants
Variants in IL6R
Penetrance
None
Publications
Panels with this gene

History Filter Activity

7 May 2020, Gel status: 3

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

Gene: il6r has been classified as Green List (High Evidence).

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 IL6R. Added phenotypes Eczema; Recurrent infections; Recurrent pyogenic infections, cold abscesses, high circulating IL-6 levels; Hyper-IgE; Combined immunodeficiencies with associated or syndromic features for gene: IL6R 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: IL6R was added gene: IL6R was added to Viral susceptibility. Sources: Expert Review Red,Literature,IUIS Classification December 2019 Mode of inheritance for gene: IL6R was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: IL6R were set to 31235509; 32086639; 32048120; 31778705 Phenotypes for gene: IL6R were set to Eczema; Recurrent infections; Recurrent pyogenic infections, cold abscesses, high circulating IL-6 levels; Hyper-IgE; Combined immunodeficiencies with associated or syndromic features