Disorders of immune dysregulation

Gene: IKZF2

Green List (high evidence)

3 families with isolated hearing loss + missense variants located within the DNA binding domain (ZF2 and ZF3 motifs).
One other missense reported in the same region in an individual with syndromic hearing loss

Variants segregated in all 3 families except for family A where the father's twin sister had milder hearing loss and is WT/WT

protein expression and ability to repress IL2 expression via luciferase assay were conducted, demonstrating LoF

Created: 7 Nov 2024, 1:08 a.m. | Last Modified: 7 Nov 2024, 1:08 a.m.

Panel Version: 1.2083

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
nonsyndromic genetic hearing loss MONDO:0019497, IKZF2-related

Publications

• PMID: 39406892

Variants in this GENE are reported as part of current diagnostic practice

Green List (high evidence)

Iranian male with homozygous missense variant with recurrent infection, hypogammaglobulinaemia. Extends inheritance to AR.

Created: 26 Jul 2022, 5:30 a.m. | Last Modified: 26 Jul 2022, 5:30 a.m.

Panel Version: 0.147

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Publications

• PMID: 34826259

Green List (high evidence)

Six individuals with systemic lupus erythematosus, immune thrombocytopenia or EBV-associated haemophagocytic lymphohistiocytosis reported with variants in this gene. Patients exhibited hypogammaglobulinaemia, decreased number of T-follicular helper and NK-cells.
Sources: Literature

Created: 24 Jan 2022, 5 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Immune dysregulation

Publications

• 34920454