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  2. Defects of intrinsic and innate immunity
  3. IL12RB2
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Defects of intrinsic and innate immunity

Gene: IL12RB2

Red List (low evidence)
IL12RB2 (interleukin 12 receptor subunit beta 2)
EnsemblGeneIds (GRCh38): ENSG00000081985
EnsemblGeneIds (GRCh37): ENSG00000081985
OMIM: 601642, Gene2Phenotype
IL12RB2 is in 2 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

Single individual reported, some functional data.
Sources: Expert list
Created: 5 Apr 2020, 7:02 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Susceptibility to mycobacteria and Salmonella

Publications

Created: 5 Apr 2020, 7:02 a.m.

Panel version: 0.7

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Expert list
Phenotypes
  • Susceptibility to mycobacteria and Salmonella
OMIM
601642
Clinvar variants
Variants in IL12RB2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

5 Apr 2020, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: il12rb2 has been classified as Red List (Low Evidence).

5 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: IL12RB2 was added gene: IL12RB2 was added to Defects of innate immunity. Sources: Expert list Mode of inheritance for gene: IL12RB2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: IL12RB2 were set to 30578351 Phenotypes for gene: IL12RB2 were set to Susceptibility to mycobacteria and Salmonella Review for gene: IL12RB2 was set to RED