Combined Immunodeficiency

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

1 review

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

Cases present with a combined immunodeficiency phenotype characterised by recurrent upper respiratory infections, thrush and mucosal ulcers, and chronic lymphadenopathy. Incomplete penetrance is reported. IUIS IEI committee include this gene in the Combined Immunodeficiencies Generally Less Profound than Severe Combined Immunodeficiency subcategory of Immunodeficiencies affecting cellular and humoral immunity.
Sources: Expert list
Created: 10 Nov 2024, 3:34 a.m.

Mode of inheritance
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal

Phenotypes
HELIOS deficiency MONDO:0800139

Publications

Details

Mode of Inheritance
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • HELIOS deficiency MONDO:0800139
OMIM
606234
Clinvar variants
Variants in IKZF2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

10 Nov 2024, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

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

10 Nov 2024, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

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

10 Nov 2024, Gel status: 1

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

Bryony Thompson (Royal Melbourne Hospital)

gene: IKZF2 was added gene: IKZF2 was added to Combined Immunodeficiency. Sources: Expert list Mode of inheritance for gene: IKZF2 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Publications for gene: IKZF2 were set to 34826260; 34826259; 34920454 Phenotypes for gene: IKZF2 were set to HELIOS deficiency MONDO:0800139 Review for gene: IKZF2 was set to GREEN