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  2. Defects of intrinsic and innate immunity
  3. IL12RB1
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Defects of intrinsic and innate immunity

Gene: IL12RB1

Green List (high evidence)
IL12RB1 (interleukin 12 receptor subunit beta 1)
EnsemblGeneIds (GRCh38): ENSG00000096996
EnsemblGeneIds (GRCh37): ENSG00000096996
OMIM: 601604, Gene2Phenotype
IL12RB1 is in 4 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Susceptibility to mycobacterial disease. Well established gene-disease association.
Created: 17 Mar 2022, 7:42 a.m. | Last Modified: 17 Mar 2022, 7:42 a.m.
Panel Version: 0.100

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Immunodeficiency 30, MIM# 614891

Publications

Created: 17 Mar 2022, 7:42 a.m.
Last Modified: 17 Mar 2022, 7:42 a.m.
Panel version: 0.100

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Immunology Flagship
  • Victorian Clinical Genetics Services
Phenotypes
  • Immunodeficiency 30, MIM# 614891
OMIM
601604
Clinvar variants
Variants in IL12RB1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

17 Mar 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: il12rb1 has been classified as Green List (High Evidence).

17 Mar 2022, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: IL12RB1 were changed from to Immunodeficiency 30, MIM# 614891

17 Mar 2022, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: IL12RB1 were set to

17 Mar 2022, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: IL12RB1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: IL12RB1 was added gene: IL12RB1 was added to Defects of innate immunity_MGHA_AGHA_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Immunology Flagship Mode of inheritance for gene: IL12RB1 was set to Unknown