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Primary immunodeficiency

Gene: IL6R

Amber List (moderate evidence)

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

6 reviews

Arina Puzriakova (Genomics England Curator)

Comment on list classification: Changed rating from Green to Amber so that Green genes on this panel reflect the NHS signed-off version. This will be reviewed at the next GMS panel update (added 'for-review' tag).
Created: 20 Oct 2020, 3:04 p.m. | Last Modified: 20 Oct 2020, 3:04 p.m.
Panel Version: 2.340

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: 2.161

Zornitza Stark (Australian Genomics)

I don't know

Two unrelated individuals reported, functional data.
Created: 10 Apr 2020, 8:18 a.m. | Last Modified: 10 Apr 2020, 8:18 a.m.
Panel Version: 2.51

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Recurrent pyogenic infections, cold abscesses; High circulating IL-6 levels; High IgE

Publications

Ellen McDonagh (Genomics England Curator)

Not yet peer-reviewed study available in medRxiv: https://www.medrxiv.org/content/10.1101/2020.04.01.20047381v1
reports an association between elevated interleukin-6 (IL-6) in COVID-19 infected patients with the need for mechanical ventilation (p=1.2.10-5). The maximal IL-6 level (cutoff 80 pg/ml) for each patient during disease predicted respiratory failure with high accuracy (p=1.7.10-8, AUC=0.98). The risk of respiratory failure for patients with IL-6 levels of ≥ 80 pg/ml was 22 times higher compared to patients with lower IL-6 levels.
Created: 8 Apr 2020, 9:32 a.m. | Last Modified: 8 Apr 2020, 9:32 a.m.
Panel Version: 2.44

Publications

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 Amber
  • IUIS Classification December 2019
Phenotypes
  • [Interleukin 6, serum level of, QTL] 614752
  • [Interleukin-6 receptor, soluble, serum level of, QTL] 614689
  • Hyper-IgE
  • Eczema
  • Recurrent infections
  • Recurrent pyogenic infections, cold abscesses, high circulating IL-6 levels
  • Combined immunodeficiencies with associated or syndromic features
Tags
for-review
OMIM
147880
Clinvar variants
Variants in IL6R
Penetrance
None
Publications
Panels with this gene

History Filter Activity

20 Oct 2020, Gel status: 2

Entity classified by Genomics England curator

Arina Puzriakova (Genomics England Curator)

Gene: il6r has been classified as Amber List (Moderate Evidence).

20 Oct 2020, Gel status: 3

Added Tag

Arina Puzriakova (Genomics England Curator)

Tag for-review tag was added to gene: IL6R.

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).

7 May 2020, Gel status: 1

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene: IL6R were changed from Hyper-IgE; Eczema; Recurrent infections; Recurrent pyogenic infections, cold abscesses, high circulating IL-6 levels; Combined immunodeficiencies with associated or syndromic features to [Interleukin 6, serum level of, QTL] 614752; [Interleukin-6 receptor, soluble, serum level of, QTL] 614689; Hyper-IgE; Eczema; Recurrent infections; Recurrent pyogenic infections, cold abscesses, high circulating IL-6 levels; Combined immunodeficiencies with associated or syndromic features

28 Feb 2020, Gel status: 1

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene IL6R were updated from 32048120; 31235509; 32086639 to 31235509; 32086639; 32048120; 31778705

28 Feb 2020, Gel status: 1

Added New Source, Set Phenotypes, Set publications

Louise Daugherty (Genomics England Curator)

Source IUIS Classification December 2019 was added to IL6R. Added phenotypes Recurrent pyogenic infections, cold abscesses, high circulating IL-6 levels; Combined immunodeficiencies with associated or syndromic features for gene: IL6R Publications for gene IL6R were updated from 31235509 to 32048120; 31235509; 32086639

26 Feb 2020, Gel status: 1

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

Gene: il6r has been classified as Red List (Low Evidence).

18 Jan 2020, Gel status: 0

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

Owen Siggs (Flinders University)

gene: IL6R was added gene: IL6R was added to Primary immunodeficiency. Sources: Literature Mode of inheritance for gene: IL6R was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: IL6R were set to 31235509 Phenotypes for gene: IL6R were set to Recurrent infections; Hyper-IgE; Eczema Review for gene: IL6R was set to GREEN