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Primary immunodeficiency or monogenic inflammatory bowel disease v4.61 IRF4 Achchuthan Shanmugasundram Tag Q4_23_promote_green tag was added to gene: IRF4.
Tag Q4_23_NHS_review tag was added to gene: IRF4.
Primary immunodeficiency or monogenic inflammatory bowel disease v4.61 IRF4 Achchuthan Shanmugasundram Phenotypes for gene: IRF4 were changed from Whipple's disease; [Skin/hair/eye pigmentation, variation in, 8] 611724 to combined immunodeficiency, MONDO:0015131
Primary immunodeficiency or monogenic inflammatory bowel disease v4.60 IRF4 Achchuthan Shanmugasundram Publications for gene: IRF4 were set to 29537367; 31953710
Primary immunodeficiency or monogenic inflammatory bowel disease v4.59 IRF4 Achchuthan Shanmugasundram Classified gene: IRF4 as Amber List (moderate evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v4.59 IRF4 Achchuthan Shanmugasundram Added comment: Comment on list classification: As reviewed by Hannah Knight, there are two different heterozygous missense variants identified from seven unrelated cases reported with hypogammaglobulinemia/ combined immunodeficiency. In addition, there is supporting functional evidence for these variants. Hence, this gene can be promoted to green rating in the next GMS review.
Primary immunodeficiency or monogenic inflammatory bowel disease v4.59 IRF4 Achchuthan Shanmugasundram Gene: irf4 has been classified as Amber List (Moderate Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v4.58 IRF4 Achchuthan Shanmugasundram reviewed gene: IRF4: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: combined immunodeficiency, MONDO:0015131; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Primary immunodeficiency or monogenic inflammatory bowel disease v4.50 IRF4 Hannah Knight reviewed gene: IRF4: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 36917008, PMID: 36662884; Phenotypes: ?Whipple's disease; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Primary immunodeficiency or monogenic inflammatory bowel disease v2.111 IRF4 Ivone Leong Publications for gene: IRF4 were set to 29537367
Primary immunodeficiency or monogenic inflammatory bowel disease v2.110 IRF4 Ivone Leong Classified gene: IRF4 as Red List (low evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.110 IRF4 Ivone Leong Added comment: 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)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.110 IRF4 Ivone Leong Gene: irf4 has been classified as Red List (Low Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v2.86 IRF4 Zornitza Stark 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
Added comment: 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