Defects of intrinsic and innate immunity
Gene: IRF8

IRF8 (interferon regulatory factor 8)
EnsemblGeneIds (GRCh38): ENSG00000140968
EnsemblGeneIds (GRCh37): ENSG00000140968
OMIM: 601565, Gene2Phenotype
IRF8 is in 3 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

At least 4 families reported with bi-allelic variants, two with mono-allelic variants. Functional data.
Created: 16 Mar 2022, 9:23 a.m. | Last Modified: 16 Mar 2022, 9:23 a.m.

Panel Version: 0.94

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Immunodeficiency 32A, mycobacteriosis, autosomal dominant, MIM# 614893; Immunodeficiency 32B, monocyte and dendritic cell deficiency, autosomal recessive, MIM# 226990

Publications

Created: 16 Mar 2022, 9:23 a.m.
Last Modified: 16 Mar 2022, 9:23 a.m.
Panel version: 0.94

Details

Mode of Inheritance

BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Sources

Expert Review Green
Melbourne Genomics Health Alliance Immunology Flagship
Victorian Clinical Genetics Services

Phenotypes

Immunodeficiency 32A, mycobacteriosis, autosomal dominant, MIM# 614893
Immunodeficiency 32B, monocyte and dendritic cell deficiency, autosomal recessive, MIM# 226990

OMIM

601565

Clinvar variants

Variants in IRF8

Penetrance

None

Publications

Panels with this gene