COVID-19 research

Gene: IL6R

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

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

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

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

• 31235509
• 31778705

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

• 31235509