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  3. IRF4
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Fetal anomalies

Gene: IRF4

Red List (low evidence)
IRF4 (interferon regulatory factor 4)
EnsemblGeneIds (GRCh38): ENSG00000137265
EnsemblGeneIds (GRCh37): ENSG00000137265
OMIM: 601900, Gene2Phenotype
IRF4 is in 5 panels

2 reviews

Arina Puzriakova (Genomics England Curator)

Red List (low evidence)

New gene added to this panel with a Red rating, inline with the recent review by the R21 Clinical Oversight Group.
Created: 5 Sep 2025, 4:41 p.m. | Last Modified: 5 Sep 2025, 4:41 p.m.
Panel Version: 6.29
Created: 5 Sep 2025, 4:41 p.m.
Last Modified: 5 Sep 2025, 4:41 p.m.
Panel version: 6.29

Natalie Chandler (North Thames GLH)

Red List (low evidence)

This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Created: 5 Sep 2025, 4:31 p.m. | Last Modified: 5 Sep 2025, 4:31 p.m.
Panel Version: 6.28
Green on UK & Aus immuno panels. Both biallelic and AD reported - Immunodeficiency 131 IUGR in clinical synopsis on OMIM. PMID29408330: 5-month-old clinical course intrauterine growth retardation, severe dermatitis, and failure to thrive, with long periods of fever without focus and tachycardia - no info on severity and onset of IUGR biallelic with UPID on chrom 6. PMID 29537367, 36917008, - large AD families no prenatal features. PMID 36662884 7 probands with same variant not related all monoallelic. No prenatal features. IUGR linked to UPD rather than gene? Red
Created: 5 Sep 2025, 2:55 p.m. | Last Modified: 5 Sep 2025, 2:55 p.m.
Panel Version: 6.24

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Immunodeficiency 131

Publications

Created: 5 Sep 2025, 2:55 p.m.
Last Modified: 5 Sep 2025, 2:55 p.m.
Panel version: 6.28

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • Immunodeficiency 131
OMIM
601900
Clinvar variants
Variants in IRF4
Penetrance
None
Publications
Panels with this gene

History Filter Activity

5 Sep 2025, Gel status: 1

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

Arina Puzriakova (Genomics England Curator)

gene: IRF4 was added gene: IRF4 was added to Fetal anomalies. Sources: Expert Review Red Mode of inheritance for gene: IRF4 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: IRF4 were set to 36917008; 36662884; 29537367; 29408330 Phenotypes for gene: IRF4 were set to Immunodeficiency 131