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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

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Fatal outcomes reported.
Created: 16 Jan 2025, 11:43 p.m. | Last Modified: 16 Jan 2025, 11:43 p.m.
Panel Version: 1.1088

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Immunodeficiency 30, MIM# 614891

Created: 16 Jan 2025, 11:43 p.m.
Last Modified: 16 Jan 2025, 11:43 p.m.
Panel version: 1.1088

Lauren Thomas (VIctorian Clinical Genetics Services)

Green List (high evidence)

Most common form of susceptibility to mycobacterial disease. Salmonellosis is present in about half of IL12RB1-deficient patients, and significant numbers of patients present with isolated salmonellosis. Severe tuberculosis has been reported in several unrelated patients, and other infections have been reported in single patients. Low penetrance, and patients have relatively mild disease and good prognosis.

HGNC approved symbol/name: IL12RB1
Known technical challenges? No
Gene reported in 3 independent families: Yes
Created: 8 Jan 2025, 4:42 a.m. | Last Modified: 8 Jan 2025, 4:42 a.m.
Panel Version: 1.992

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Immunodeficiency 30, MIM# 614891

Publications

Created: 8 Jan 2025, 4:42 a.m.
Last Modified: 8 Jan 2025, 4:42 a.m.
Panel version: 1.1268

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Immunodeficiency 30, MIM#614891
OMIM
601604
Clinvar variants
Variants in IL12RB1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

16 Jan 2025, 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).

16 Jan 2025, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: IL12RB1 were changed from Immunodeficiency 30, 614891 (3) to Immunodeficiency 30, MIM#614891

16 Jan 2025, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: IL12RB1 were set to

1 Jun 2022, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: IL12RB1 was added gene: IL12RB1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: IL12RB1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: IL12RB1 were set to Immunodeficiency 30, 614891 (3)