Defects of intrinsic and innate immunity
Gene: IRF4

IRF4 (interferon regulatory factor 4)
EnsemblGeneIds (GRCh38): ENSG00000137265
EnsemblGeneIds (GRCh37): ENSG00000137265
OMIM: 601900, Gene2Phenotype
IRF4 is in 3 panels

1 review

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

IRF4 is a transcription factor involved in the regulation of innate immunity. Definitive gene-disease association - https://search.clinicalgenome.org/CCID:008358. The IUIS IEI committee categorises this gene as other inborn errors of immunity related to leukocytes.
Sources: Expert list
Created: 15 Dec 2024, 11:23 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
combined immunodeficiency MONDO:0015131

Publications

36662884, 36917008, 29537367, 29408330

Variants in this GENE are reported as part of current diagnostic practice

Created: 15 Dec 2024, 11:23 p.m.

Panel version: 0.164

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Expert Review Green
Expert list

Phenotypes

combined immunodeficiency MONDO:0015131

OMIM

601900

Clinvar variants

Variants in IRF4

Penetrance

None

Publications

36662884, 36917008, 29537367, 29408330

Panels with this gene

History Filter Activity

15 Dec 2024, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: irf4 has been classified as Green List (High Evidence).

15 Dec 2024, Gel status: 1

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