Primary immunodeficiency or monogenic inflammatory bowel disease
Gene: IKZF2EnsemblGeneIds (GRCh38): ENSG00000030419
EnsemblGeneIds (GRCh37): ENSG00000030419
OMIM: 606234, Gene2Phenotype
IKZF2 is in 3 panels
5 reviews
Ida Ertmanska (Genomics England Curator)
Comment on phenotypes: OMIM phenotypes updated 20 Mar 2026.Created: 20 Mar 2026, 11:46 a.m. | Last Modified: 20 Mar 2026, 11:46 a.m.
Panel Version: 8.88
Eleanor Williams (Genomics England Curator)
This 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
Arina Puzriakova (Genomics England Curator)
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
Dmitrijs Rots (Children's Clinical University Hospital)
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
Boaz Palterer (University of Florence)
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
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- NHS GMS
- Expert Review Green
- Phenotypes
-
- Immunodysregulation with variable immunodeficiency and autoimmunity, OMIM:621233
- Immunodysregulation, craniofacial anomalies, hearing impairment, athelia, and developmental delay, OMIM:621234
- OMIM
- 606234
- Clinvar variants
- Variants in IKZF2
- Penetrance
- unknown
- Publications
- Panels with this gene
History Filter Activity
Removed Tag
Ida Ertmanska (Genomics England Curator)Tag gene-checked was removed from gene: IKZF2.
Set Phenotypes
Ida Ertmanska (Genomics England Curator)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
Added Tag
Eleanor Williams (Genomics England Curator)Tag gene-checked tag was added to gene: IKZF2.
Removed Tag
Achchuthan Shanmugasundram (Genomics England Curator)Tag Q2_23_promote_green was removed from gene: IKZF2.
Added New Source, Added New Source, Status Update
Achchuthan Shanmugasundram (Genomics England Curator)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)
Entity classified by Genomics England curator
Arina Puzriakova (Genomics England Curator)Gene: ikzf2 has been classified as Amber List (Moderate Evidence).
Added Tag
Arina Puzriakova (Genomics England Curator)Tag Q2_23_promote_green tag was added to gene: IKZF2.
Set publications
Arina Puzriakova (Genomics England Curator)Publications for gene: IKZF2 were set to 34826260
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set penetrance
Boaz Palterer (University of Florence)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