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Primary immunodeficiency or monogenic inflammatory bowel disease v4.48 IRF2BP2 Achchuthan Shanmugasundram Tag Q4_23_NHS_review tag was added to gene: IRF2BP2.
Primary immunodeficiency or monogenic inflammatory bowel disease v4.41 IRF2BP2 Achchuthan Shanmugasundram Classified gene: IRF2BP2 as Amber List (moderate evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v4.41 IRF2BP2 Achchuthan Shanmugasundram Added comment: Comment on list classification: As reviewed by Hannah Knight, there are four unrelated cases in support of the association of monoallelic IRF2BP2 variants with immunodeficiency. Hence, this gene can be promoted to green rating in the next GMS review.
Primary immunodeficiency or monogenic inflammatory bowel disease v4.41 IRF2BP2 Achchuthan Shanmugasundram Gene: irf2bp2 has been classified as Amber List (Moderate Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v4.40 IRF2BP2 Achchuthan Shanmugasundram Tag Q4_23_promote_green tag was added to gene: IRF2BP2.
Primary immunodeficiency or monogenic inflammatory bowel disease v4.40 IRF2BP2 Achchuthan Shanmugasundram reviewed gene: IRF2BP2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ?Immunodeficiency, common variable, 14, OMIM:617765; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Primary immunodeficiency or monogenic inflammatory bowel disease v4.35 IRF2BP2 Hannah Knight reviewed gene: IRF2BP2: Rating: GREEN; Mode of pathogenicity: None; Publications: 27016798, 33864888, 34451894, 36193988; Phenotypes: ?Immunodeficiency, common variable, 14; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Primary immunodeficiency or monogenic inflammatory bowel disease v2.34 IRF2BP2 Louise Daugherty Source IUIS Classification December 2019 was added to IRF2BP2.
Added phenotypes Recurrent infections, possible autoimmunity and inflammatory disease; Predominantly Antibody Deficiencies for gene: IRF2BP2
Publications for gene IRF2BP2 were updated from 27016798 to 32048120; 27016798; 32086639
Primary immunodeficiency or monogenic inflammatory bowel disease IRF2BP2 Louise Daugherty marked gene: IRF2BP2 as ready
Primary immunodeficiency or monogenic inflammatory bowel disease IRF2BP2 Louise Daugherty commented on gene: IRF2BP2
Primary immunodeficiency or monogenic inflammatory bowel disease IRF2BP2 Louise Daugherty reviewed gene: IRF2BP2
Primary immunodeficiency or monogenic inflammatory bowel disease IRF2BP2 Sophie Hambleton reviewed gene: IRF2BP2
Primary immunodeficiency or monogenic inflammatory bowel disease IRF2BP2 Louise Daugherty Added gene to panel