Primary immunodeficiency or monogenic inflammatory bowel disease
Gene: IL6RThe rating of this gene has been updated following NHS Genomic Medicine Service approval.Created: 4 Mar 2022, 10:17 a.m. | Last Modified: 4 Mar 2022, 10:17 a.m.
Panel Version: 2.529
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
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
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
Not yet peer-reviewed study available in medRxiv: https://www.medrxiv.org/content/10.1101/2020.04.01.20047381v1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
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, 4:29 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
Two unrelated cases with homozygous variants (frameshift or missense) and compelling functional evidence.
Sources: LiteratureCreated: 18 Jan 2020, 7:49 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Recurrent infections; Hyper-IgE; Eczema
Publications
Tag for-review was removed from gene: IL6R.
Source Expert Review Green was added to IL6R. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Gene: il6r has been classified as Amber List (Moderate Evidence).
Tag for-review tag was added to gene: IL6R.
Gene: il6r has been classified as Green List (High Evidence).
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
Publications for gene IL6R were updated from 32048120; 31235509; 32086639 to 31235509; 32086639; 32048120; 31778705
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
Gene: il6r has been classified as Red List (Low Evidence).
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