Primary immunodeficiency or monogenic inflammatory bowel disease
Gene: IKZF2This gene currently has no phenotype listed in OMIM so checked PMID:34826260 to make sure that the same gene name is mentioned. It is, so added the gene-checked tagged.Created: 16 Oct 2023, 5:30 p.m. | Last Modified: 16 Oct 2023, 5:30 p.m.
Panel Version: 4.50
The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.Created: 11 Oct 2023, 12:54 p.m. | Last Modified: 11 Oct 2023, 12:54 p.m.
Panel Version: 4.37
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.Created: 11 May 2023, 4:11 p.m. | Last Modified: 11 May 2023, 4:11 p.m.
Panel Version: 4.8
Multiple reported cases in the literature, so enough evidence to promote to green.Created: 8 Jan 2023, 4:42 p.m. | Last Modified: 8 Jan 2023, 4:42 p.m.
Panel Version: 3.2
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Immunodeficiency
Publications
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: LiteratureCreated: 23 Dec 2021, 9:38 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
combined immunodeficiency; thrush; mucosal ulcers; chronic lymphoadenopathy; reduced MAIT cells
Publications
Tag gene-checked tag was added to gene: IKZF2.
Tag Q2_23_promote_green was removed from gene: IKZF2.
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)
Gene: ikzf2 has been classified as Amber List (Moderate Evidence).
Tag Q2_23_promote_green tag was added to gene: IKZF2.
Publications for gene: IKZF2 were set to 34826260
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