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Combined Immunodeficiency v0.159 IL6R Zornitza Stark Phenotypes for gene: IL6R were changed from Recurrent pyogenic infections, cold abscesses; High circulating IL-6 levels; High IgE to Recurrent pyogenic infections, cold abscesses; High circulating IL-6 levels; High IgE; IgE recurrent infection syndrome, MIM#618944
Combined Immunodeficiency v0.158 IL6R Zornitza Stark edited their review of gene: IL6R: Changed phenotypes: Recurrent pyogenic infections, cold abscesses, High circulating IL-6 levels, High IgE, IgE recurrent infection syndrome, MIM#618944
Combined Immunodeficiency v0.67 IL6R Zornitza Stark Marked gene: IL6R as ready
Combined Immunodeficiency v0.67 IL6R Zornitza Stark Gene: il6r has been classified as Amber List (Moderate Evidence).
Combined Immunodeficiency v0.67 IL6R Zornitza Stark Classified gene: IL6R as Amber List (moderate evidence)
Combined Immunodeficiency v0.67 IL6R Zornitza Stark Gene: il6r has been classified as Amber List (Moderate Evidence).
Combined Immunodeficiency v0.66 IL6R Zornitza Stark gene: IL6R was added
gene: IL6R was added to Combined Immunodeficiency. Sources: Expert list
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 pyogenic infections, cold abscesses; High circulating IL-6 levels; High IgE
Review for gene: IL6R was set to AMBER
Added comment: Two unrelated individuals reported, some functional data.
Sources: Expert list