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STRs in panel
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Primary immunodeficiency

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 3 panels

2 reviews

Ivone Leong (Genomics England Curator)

Comment on list classification: Gene given Red gene status based on expert review. This gene is also found in the IUIS 2019 paper (PMID: 31953710)
Created: 22 Apr 2020, 12:42 p.m. | Last Modified: 22 Apr 2020, 12:42 p.m.
Panel Version: 2.116

Zornitza Stark (Australian Genomics)

Red List (low evidence)

Single individual reported, some functional data.
Sources: Expert list
Created: 16 Apr 2020, 11:29 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Susceptibility to mycobacteria and Salmonella

Publications

Details

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

History Filter Activity

22 Apr 2020, Gel status: 1

Set publications

Ivone Leong (Genomics England Curator)

Publications for gene: IL12RB2 were set to 30578351; 31953710

22 Apr 2020, Gel status: 1

Set publications

Ivone Leong (Genomics England Curator)

Publications for gene: IL12RB2 were set to 30578351

22 Apr 2020, Gel status: 1

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

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

16 Apr 2020, Gel status: 0

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

Zornitza Stark (Australian Genomics)

gene: IL12RB2 was added gene: IL12RB2 was added to Primary immunodeficiency. 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