Activity

Filter

Cancel
Date Panel Item Activity
47 actions
Primary immunodeficiency or monogenic inflammatory bowel disease v7.26 IL6ST Achchuthan Shanmugasundram Tag Q3_24_MOI was removed from gene: IL6ST.
Primary immunodeficiency or monogenic inflammatory bowel disease v7.26 IL6ST Achchuthan Shanmugasundram commented on gene: IL6ST: The mode of inheritance of this gene has been updated to BOTH monoallelic and biallelic, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.
Primary immunodeficiency or monogenic inflammatory bowel disease v7.25 IL6ST Achchuthan Shanmugasundram Source NHS GMS was added to IL6ST.
Mode of inheritance for gene IL6ST was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Primary immunodeficiency or monogenic inflammatory bowel disease v5.10 IL6ST Achchuthan Shanmugasundram changed review comment from: Comment on mode of inheritance: As reviewed previously by Zornitza Stark, MOI of this gene should be updated to 'BOTH monoallelic and biallelic, autosomal or pseudoautosomal' in the next GMS update.; to: Comment on mode of inheritance: As reviewed previously by Zornitza Stark, there is sufficient evidence available for the association of monoallelic IL6ST variants to this panel. Hence, the MOI should be updated to 'BOTH monoallelic and biallelic, autosomal or pseudoautosomal' in the next GMS update.
Primary immunodeficiency or monogenic inflammatory bowel disease v5.10 IL6ST Achchuthan Shanmugasundram Mode of inheritance for gene: IL6ST was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Primary immunodeficiency or monogenic inflammatory bowel disease v5.9 IL6ST Achchuthan Shanmugasundram Phenotypes for gene: IL6ST were changed from Hyper-IgE recurrent infection syndrome 4, autosomal recessive 618523; Stuve-Wiedemann-like syndrome: skeletal dysplasia, neonatal lung dysfunction, thrombocytopenia, dermatitis, defective acute-phase response.; Hyper-IgE syndrome, autosomal dominant to Hyper-IgE syndrome 4A, autosomal dominant, with recurrent infections, OMIM:619752; ?Immunodeficiency 94 with autoinflammation and dysmorphic facies, OMIM:619750; Hyper-IgE syndrome 4B, autosomal recessive, with recurrent infections, OMIM:618523; Stuve-Wiedemann syndrome 2, OMIM:619751
Primary immunodeficiency or monogenic inflammatory bowel disease v5.8 IL6ST Achchuthan Shanmugasundram Tag Q3_24_MOI tag was added to gene: IL6ST.
Primary immunodeficiency or monogenic inflammatory bowel disease v5.8 IL6ST Achchuthan Shanmugasundram reviewed gene: IL6ST: Rating: GREEN; Mode of pathogenicity: Other; Publications: 32207811; Phenotypes: Hyper-IgE syndrome 4A, autosomal dominant, with recurrent infections, OMIM:619752, ?Immunodeficiency 94 with autoinflammation and dysmorphic facies, OMIM:619750, Hyper-IgE syndrome 4B, autosomal recessive, with recurrent infections, OMIM:618523, Stuve-Wiedemann syndrome 2, OMIM:619751; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Primary immunodeficiency or monogenic inflammatory bowel disease v2.529 IL6ST Arina Puzriakova Tag for-review was removed from gene: IL6ST.
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 IL6ST Arina Puzriakova commented on gene: IL6ST: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
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 IL6ST Arina Puzriakova Source Expert Review Green was added to IL6ST.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
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)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.419 IL6ST Eleanor Williams reviewed gene: IL6ST: Rating: ; Mode of pathogenicity: None; Publications: 33517393; Phenotypes: ; Mode of inheritance: None
Primary immunodeficiency or monogenic inflammatory bowel disease v2.342 IL6ST Arina Puzriakova Classified gene: IL6ST as Amber List (moderate evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.342 IL6ST Arina Puzriakova Gene: il6st has been classified as Amber List (Moderate Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v2.341 IL6ST Arina Puzriakova Tag for-review tag was added to gene: IL6ST.
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 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 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 v2.158 IL6ST Sarah Leigh Classified gene: IL6ST as Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.158 IL6ST Sarah Leigh Gene: il6st has been classified as Green List (High Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v2.157 IL6ST Sarah Leigh Phenotypes for gene: IL6ST were changed from Eosinophilia; Eczema; Bacterial infections, boiles, eczema, pulmonary abscesses, pneumatoceles, bone fractures, scoliosis, retention of primary teeth, craniosynostosis; Abnormal acute-phase responses; Recurrent infections; Elevated IgE; Combined immunodeficiencies with associated or syndromic features to Hyper-IgE recurrent infection syndrome 4, autosomal recessive 618523; Stuve-Wiedemann-like syndrome: skeletal dysplasia, neonatal lung dysfunction, thrombocytopenia, dermatitis, defective acute-phase response.; Hyper-IgE syndrome, autosomal dominant
Primary immunodeficiency or monogenic inflammatory bowel disease v2.156 IL6ST Sarah Leigh Publications for gene: IL6ST were set to 31235509; 32086639; 30309848; 28747427; 32048120
Primary immunodeficiency or monogenic inflammatory bowel disease v2.51 IL6ST Zornitza Stark reviewed gene: IL6ST: Rating: GREEN; Mode of pathogenicity: None; Publications: 32207811, 28747427, 30309848, 12370259, 16041381, 31914175; Phenotypes: Hyper-IgE recurrent infection syndrome 4, autosomal recessive, MIM# 618523, Stuve-Wiedemann-like syndrome: skeletal dysplasia, neonatal lung dysfunction, thrombocytopenia, dermatitis, defective acute-phase response., Hyper-IgE syndrome, autosomal dominant; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
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 v2.45 IL6 Ellen McDonagh gene: IL6 was added
gene: IL6 was added to Primary immunodeficiency. Sources: Literature
Mode of inheritance for gene: IL6 was set to Unknown
Publications for gene: IL6 were set to medRxiv 2020.04.01.20047381; doi: https://doi.org/10.1101/2020.04.01.20047381
Phenotypes for gene: IL6 were set to Potential marker for respiratory failure when infected with COVID-19
Review for gene: IL6 was set to RED
Added comment: 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.
Sources: Literature
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 IL6ST Louise Daugherty edited their review of gene: IL6ST: Added comment: Added publication referenced by IUIS december 2019 update; Changed rating: AMBER; Changed publications: 30309848, 28747427
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 IL6ST Louise Daugherty Publications for gene IL6ST were updated from 32048120; 31235509; 32086639 to 31235509; 32086639; 30309848; 28747427; 32048120
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 IL6ST Louise Daugherty Source IUIS Classification December 2019 was added to IL6ST.
Added phenotypes Bacterial infections, boiles, eczema, pulmonary abscesses, pneumatoceles, bone fractures, scoliosis, retention of primary teeth, craniosynostosis; Combined immunodeficiencies with associated or syndromic features for gene: IL6ST
Publications for gene IL6ST were updated from 31235509 to 32048120; 31235509; 32086639
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
Primary immunodeficiency or monogenic inflammatory bowel disease v2.5 IL6ST Louise Daugherty Classified gene: IL6ST as Red List (low evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.5 IL6ST Louise Daugherty Gene: il6st has been classified as Red List (Low Evidence).
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 Gene: il6r has been classified as Red List (Low Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v2.0 IL6ST Louise Daugherty reviewed gene: IL6ST: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
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
Primary immunodeficiency or monogenic inflammatory bowel disease v2.0 IL6ST Owen Siggs reviewed gene: IL6ST: Rating: GREEN; Mode of pathogenicity: None; Publications: 28747427, 30309848; Phenotypes: Hyper-IgE syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Primary immunodeficiency or monogenic inflammatory bowel disease v2.0 IL6ST Owen Siggs gene: IL6ST was added
gene: IL6ST was added to Primary immunodeficiency. Sources: Literature
Mode of inheritance for gene: IL6ST was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: IL6ST were set to 31235509
Phenotypes for gene: IL6ST were set to Recurrent infections; Abnormal acute-phase responses; Elevated IgE; Eczema; Eosinophilia
Review for gene: IL6ST was set to GREEN
Added comment: Two unrelated cases with homozygous variants (nonsense or missense), with functional evidence of causation.
Sources: Literature