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Newborns main panel

Gene: IL12B

Green List (high evidence)
IL12B (interleukin 12B)
EnsemblGeneIds (GRCh38): ENSG00000113302
EnsemblGeneIds (GRCh37): ENSG00000113302
OMIM: 161561, Gene2Phenotype
IL12B 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: 23429356 - 30 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 29, mycobacteriosis
OMIM
161561
Clinvar variants
Variants in IL12B
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: IL12B was added gene: IL12B was added to Newborns main panel. Sources: Expert Review Green Mode of inheritance for gene: IL12B was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: IL12B were set to Immunodeficiency 29, mycobacteriosis