Disorders of immune dysregulation
Gene: IKZF2
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 LoFCreated: 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
Variants in this GENE are reported as part of current diagnostic practice
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
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: LiteratureCreated: 24 Jan 2022, 5 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Immune dysregulation
Publications
Phenotypes for gene: IKZF2 were changed from Immune dysregulation to Immunodeficiency, MONDO:0021094, IKZF2-related; Immune dysregulation
Publications for gene: IKZF2 were set to 34920454
Mode of inheritance for gene: IKZF2 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Gene: ikzf2 has been classified as Green List (High Evidence).
Gene: ikzf2 has been classified as Green List (High Evidence).
gene: IKZF2 was added gene: IKZF2 was added to Disorders of immune dysregulation. Sources: Literature Mode of inheritance for gene: IKZF2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: IKZF2 were set to 34920454 Phenotypes for gene: IKZF2 were set to Immune dysregulation Review for gene: IKZF2 was set to GREEN