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Primary immunodeficiency

Gene: IRF4

Red List (low evidence)

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

2 reviews

Ivone Leong (Genomics England Curator)

Comment on list classification: Gene given Red gene status based on expert review. This gene is also found in the IUIS 2019 paper (PMID: 31953710)
Created: 22 Apr 2020, 12:06 p.m. | Last Modified: 22 Apr 2020, 12:06 p.m.
Panel Version: 2.110

Zornitza Stark (Australian Genomics)

Red List (low evidence)

Single family reported with Whipple's disease and a rare missense in IRF4. Younger healthy carrier members of the family had the same variant as older affected individuals, leading the authors to speculate about age-dependent penetrance. GWAS indicates separate link with skin/hair/eye pigmentation.
Sources: Expert list
Created: 16 Apr 2020, 11:43 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Whipple's disease; [Skin/hair/eye pigmentation, variation in, 8] 611724

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
Phenotypes
  • Whipple's disease
  • [Skin/hair/eye pigmentation, variation in, 8] 611724
OMIM
601900
Clinvar variants
Variants in IRF4
Penetrance
None
Publications
Panels with this gene

History Filter Activity

22 Apr 2020, Gel status: 1

Set publications

Ivone Leong (Genomics England Curator)

Publications for gene: IRF4 were set to 29537367

22 Apr 2020, Gel status: 1

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

Gene: irf4 has been classified as Red List (Low Evidence).

16 Apr 2020, Gel status: 0

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

Zornitza Stark (Australian Genomics)

gene: IRF4 was added gene: IRF4 was added to Primary immunodeficiency. 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 29537367 Phenotypes for gene: IRF4 were set to Whipple's disease; [Skin/hair/eye pigmentation, variation in, 8] 611724 Review for gene: IRF4 was set to RED