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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 |