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Primary immunodeficiency or monogenic inflammatory bowel disease v8.88 IKZF2 Ida Ertmanska Tag gene-checked was removed from gene: IKZF2.
Primary immunodeficiency or monogenic inflammatory bowel disease v8.88 IKZF2 Ida Ertmanska Added comment: Comment on phenotypes: OMIM phenotypes updated 20 Mar 2026.
Primary immunodeficiency or monogenic inflammatory bowel disease v8.88 IKZF2 Ida Ertmanska Phenotypes for gene: IKZF2 were changed from combined immunodeficiency; thrush; mucosal ulcers; chronic lymphoadenopathy; reduced MAIT cells to Immunodysregulation with variable immunodeficiency and autoimmunity, OMIM:621233; Immunodysregulation, craniofacial anomalies, hearing impairment, athelia, and developmental delay, OMIM:621234
Primary immunodeficiency or monogenic inflammatory bowel disease v4.50 IKZF2 Eleanor Williams Tag gene-checked tag was added to gene: IKZF2.
Primary immunodeficiency or monogenic inflammatory bowel disease v4.50 IKZF2 Eleanor Williams commented on gene: IKZF2
Primary immunodeficiency or monogenic inflammatory bowel disease v4.37 IKZF2 Achchuthan Shanmugasundram Tag Q2_23_promote_green was removed from gene: IKZF2.
Primary immunodeficiency or monogenic inflammatory bowel disease v4.37 IKZF2 Arina Puzriakova edited their review of gene: IKZF2: Added comment: The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.; Changed rating: GREEN
Primary immunodeficiency or monogenic inflammatory bowel disease v4.36 IKZF2 Achchuthan Shanmugasundram Source Expert Review Green was added to IKZF2.
Source NHS GMS was added to IKZF2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v4.8 IKZF2 Arina Puzriakova Classified gene: IKZF2 as Amber List (moderate evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v4.8 IKZF2 Arina Puzriakova Added comment: Comment on list classification: There is sufficient evidence to promote this gene to Green at then next GMS panel update. At least 6 unrelated families reported with variable features of immune dysregulation who harbour different deleterious heterozygous variants in the IKZF2 gene.
Primary immunodeficiency or monogenic inflammatory bowel disease v4.8 IKZF2 Arina Puzriakova Gene: ikzf2 has been classified as Amber List (Moderate Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v4.7 IKZF2 Arina Puzriakova Tag Q2_23_promote_green tag was added to gene: IKZF2.
Primary immunodeficiency or monogenic inflammatory bowel disease v4.7 IKZF2 Arina Puzriakova Publications for gene: IKZF2 were set to 34826260
Primary immunodeficiency or monogenic inflammatory bowel disease v3.2 IKZF2 Dmitrijs Rots reviewed gene: IKZF2: Rating: GREEN; Mode of pathogenicity: None; Publications: 34826260, 34920454; Phenotypes: Immunodeficiency; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Primary immunodeficiency or monogenic inflammatory bowel disease v2.498 IKZF2 Boaz Palterer edited their review of gene: IKZF2: Changed publications to: 34826260, 34920454
Primary immunodeficiency or monogenic inflammatory bowel disease v2.498 IKZF2 Boaz Palterer gene: IKZF2 was added
gene: IKZF2 was added to Primary immunodeficiency. Sources: Literature
Mode of inheritance for gene: IKZF2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: IKZF2 were set to 34826260
Phenotypes for gene: IKZF2 were set to combined immunodeficiency; thrush; mucosal ulcers; chronic lymphoadenopathy; reduced MAIT cells
Penetrance for gene: IKZF2 were set to unknown
Added comment: Patients carrying the IKZF2 variant presented with a combined immunodeficiency phenotype characterized by recurrent upper respiratory infections, thrush and mucosal ulcers, and chronic lymphadenopathy. Reduced Helios expression was associated with chronic T cell activation and increased production of proinflammatory cytokines both in effector and regulatory T cells.
Sources: Literature