Defects of intrinsic and innate immunity

Gene: IRF4

Green List (high evidence)

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

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

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Immunodeficiency 131, MIM# 621097
OMIM
601900
Clinvar variants
Variants in IRF4
Penetrance
None
Publications
Panels with this gene

History Filter Activity

27 Feb 2025, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

27 Feb 2025, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: IRF4 were changed from combined immunodeficiency MONDO:0015131 to Immunodeficiency 131, MIM# 621097

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

Bryony Thompson (Royal Melbourne Hospital)

gene: IRF4 was added gene: IRF4 was added to Defects of innate immunity. Sources: Expert list Mode of inheritance for gene: IRF4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: IRF4 were set to 36662884, 36917008, 29537367, 29408330 Phenotypes for gene: IRF4 were set to combined immunodeficiency MONDO:0015131 Review for gene: IRF4 was set to GREEN gene: IRF4 was marked as current diagnostic