1. Panels
  2. Newborns main panel
  3. IL12RB1
Genes in panel
Prev Next
STRs in panel
Prev Next
Regions in panel
Prev Next

Newborns main panel

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 3 panels

1 review

Arina Puzriakova (Genomics England Curator)

The mechanism of pathogenicity is loss-of-function (LOF)
Created: 31 Dec 2025, 2:36 p.m. | Last Modified: 31 Dec 2025, 2:36 p.m.
Panel Version: 0.499
PMID: 36044171 - 13 families. PMID: 21057261 - 102 families
Created: 31 Dec 2025, 2:27 p.m. | Last Modified: 31 Dec 2025, 2:27 p.m.
Panel Version: 0.498
Created: 31 Dec 2025, 2:27 p.m.
Last Modified: 31 Dec 2025, 2:27 p.m.
Panel version: 0.499

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Immunodeficiency 30
OMIM
601604
Clinvar variants
Variants in IL12RB1
Penetrance
None
Panels with this gene

History Filter Activity

31 Dec 2025, Gel status: 3

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

Arina Puzriakova (Genomics England Curator)

gene: IL12RB1 was added gene: IL12RB1 was added to Newborns main panel. Sources: 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