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  3. IL12B
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Defects of intrinsic and innate immunity

Gene: IL12B

Green List (high evidence)
IL12B (interleukin 12B)
EnsemblGeneIds (GRCh38): ENSG00000113302
EnsemblGeneIds (GRCh37): ENSG00000113302
OMIM: 161561, Gene2Phenotype
IL12B is in 2 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

At least 3 unrelated families reported.
Created: 17 Mar 2022, 11:03 p.m. | Last Modified: 17 Mar 2022, 11:03 p.m.
Panel Version: 0.103

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Immunodeficiency 29, mycobacteriosis, MIM# 614890

Publications

Created: 17 Mar 2022, 11:03 p.m.
Last Modified: 17 Mar 2022, 11:03 p.m.
Panel version: 0.103

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Immunology Flagship
  • Victorian Clinical Genetics Services
Phenotypes
  • Immunodeficiency 29, mycobacteriosis, MIM# 614890
OMIM
161561
Clinvar variants
Variants in IL12B
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: il12b 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: IL12B were changed from to Immunodeficiency 29, mycobacteriosis, MIM# 614890

17 Mar 2022, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: IL12B 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: IL12B 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: IL12B was added gene: IL12B 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: IL12B was set to Unknown