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Primary immunodeficiency or monogenic inflammatory bowel disease v2.529 | IL6R | Arina Puzriakova Tag for-review was removed from gene: IL6R. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Primary immunodeficiency or monogenic inflammatory bowel disease v2.529 | IL6R | Arina Puzriakova commented on gene: IL6R: The rating of this gene has been updated following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Primary immunodeficiency or monogenic inflammatory bowel disease v2.528 | IL6R |
Arina Puzriakova Source Expert Review Green was added to IL6R. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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Primary immunodeficiency or monogenic inflammatory bowel disease v2.340 | IL6R | Arina Puzriakova Classified gene: IL6R as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Primary immunodeficiency or monogenic inflammatory bowel disease v2.340 | IL6R | Arina Puzriakova Added comment: 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). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Primary immunodeficiency or monogenic inflammatory bowel disease v2.340 | IL6R | Arina Puzriakova Gene: il6r has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Primary immunodeficiency or monogenic inflammatory bowel disease v2.339 | IL6R | Arina Puzriakova Tag for-review tag was added to gene: IL6R. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Primary immunodeficiency or monogenic inflammatory bowel disease v2.161 | IL6R | Sarah Leigh Classified gene: IL6R as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Primary immunodeficiency or monogenic inflammatory bowel disease v2.161 | IL6R | Sarah Leigh Added comment: 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. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Primary immunodeficiency or monogenic inflammatory bowel disease v2.161 | IL6R | Sarah Leigh Gene: il6r has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Primary immunodeficiency or monogenic inflammatory bowel disease v2.160 | IL6R | Sarah Leigh 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 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Primary immunodeficiency or monogenic inflammatory bowel disease v2.51 | IL6R | Zornitza Stark reviewed gene: IL6R: Rating: AMBER; Mode of pathogenicity: None; Publications: 31235509; Phenotypes: Recurrent pyogenic infections, cold abscesses, High circulating IL-6 levels, High IgE; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Primary immunodeficiency or monogenic inflammatory bowel disease v2.44 | IL6R | Ellen McDonagh reviewed gene: IL6R: Rating: ; Mode of pathogenicity: None; Publications: medRxiv 2020.04.01.20047381, doi: https://doi.org/10.1101/2020.04.01.20047381; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Primary immunodeficiency or monogenic inflammatory bowel disease v2.36 | IL6R | Louise Daugherty edited their review of gene: IL6R: Added comment: Added publication referenced by IUIS december 2019 update; Changed rating: AMBER; Changed publications: 31235509, 31778705 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Primary immunodeficiency or monogenic inflammatory bowel disease v2.35 | IL6R | Louise Daugherty Publications for gene IL6R were updated from 32048120; 31235509; 32086639 to 31235509; 32086639; 32048120; 31778705 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Primary immunodeficiency or monogenic inflammatory bowel disease v2.34 | IL6R |
Louise Daugherty 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 |
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Primary immunodeficiency or monogenic inflammatory bowel disease v2.4 | IL6R | Louise Daugherty Classified gene: IL6R as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Primary immunodeficiency or monogenic inflammatory bowel disease v2.4 | IL6R | Louise Daugherty Added comment: Comment on list classification: New gene added for review | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Primary immunodeficiency or monogenic inflammatory bowel disease v2.4 | IL6R | Louise Daugherty Gene: il6r has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Primary immunodeficiency or monogenic inflammatory bowel disease v2.0 | IL6R | Louise Daugherty reviewed gene: IL6R: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Primary immunodeficiency or monogenic inflammatory bowel disease v2.0 | IL6R |
Owen Siggs 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 Added comment: Two unrelated cases with homozygous variants (frameshift or missense) and compelling functional evidence. Sources: Literature |