Disorders of immune dysregulation

Gene: IKZF2

Green List (high evidence)

IKZF2 (IKAROS family zinc finger 2)
EnsemblGeneIds (GRCh38): ENSG00000030419
EnsemblGeneIds (GRCh37): ENSG00000030419
OMIM: 606234, Gene2Phenotype
IKZF2 is in 4 panels

3 reviews

Ain Roesley (Victorian Clinical Genetics Services)

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

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

Peter McNaughton (Queensland Children's Hospital)

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Immunodeficiency, MONDO:0021094, IKZF2-related
  • Immune dysregulation
OMIM
606234
Clinvar variants
Variants in IKZF2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

28 Jul 2022, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: IKZF2 were changed from Immune dysregulation to Immunodeficiency, MONDO:0021094, IKZF2-related; Immune dysregulation

28 Jul 2022, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: IKZF2 were set to 34920454

28 Jul 2022, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: IKZF2 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

24 Jan 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: ikzf2 has been classified as Green List (High Evidence).

24 Jan 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: ikzf2 has been classified as Green List (High Evidence).

24 Jan 2022, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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