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  3. IL6R
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Combined Immunodeficiency

Gene: IL6R

Amber List (moderate evidence)
IL6R (interleukin 6 receptor)
EnsemblGeneIds (GRCh38): ENSG00000160712
EnsemblGeneIds (GRCh37): ENSG00000160712
OMIM: 147880, Gene2Phenotype
IL6R is in 2 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

Two unrelated individuals reported, some functional data.
Sources: Expert list
Created: 4 Apr 2020, 12:39 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Recurrent pyogenic infections, cold abscesses; High circulating IL-6 levels; High IgE; IgE recurrent infection syndrome, MIM#618944

Publications

Created: 4 Apr 2020, 12:39 a.m.

Panel version: 0.158

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Expert list
Phenotypes
  • Recurrent pyogenic infections, cold abscesses
  • High circulating IL-6 levels
  • High IgE
  • IgE recurrent infection syndrome, MIM#618944
OMIM
147880
Clinvar variants
Variants in IL6R
Penetrance
None
Publications
Panels with this gene

History Filter Activity

22 Jul 2020, Gel status: 2

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

4 Apr 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: il6r has been classified as Amber List (Moderate Evidence).

4 Apr 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: il6r has been classified as Amber List (Moderate Evidence).

4 Apr 2020, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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