A- or hypo-gammaglobulinaemia
Gene: IKZF1

IKZF1 (IKAROS family zinc finger 1)
EnsemblGeneIds (GRCh38): ENSG00000185811
EnsemblGeneIds (GRCh37): ENSG00000185811
OMIM: 603023, Gene2Phenotype
IKZF1 is in 6 panels

3 reviews

Sophie Hambleton (Newcastle University)

Green List (high evidence)

"One adult and several children with IKAROS deficiency were asymptomatic, suggesting that penetrance is incomplete"
Created: 6 Jan 2017, 3:09 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Created: 6 Jan 2017, 3:09 p.m.

Panel version: 1.4

Ellen Thomas (Genomics England Curator)

Comment on list classification: Heterozygous missense variants cause common variable immunodeficiency.
Created: 16 May 2016, 1:48 p.m.

Created: 16 May 2016, 1:48 p.m.

Panel version: 0.124

Sarah Leigh (Genomics England Curator)

Comment when marking as ready: No expert reviews. No association on Gen2Phen. Gene targeted for analysis because phenotype matched Ikzf1-null mouse. 5 LOH variants reported in unrelated families.
Created: 11 May 2016, 9:05 a.m.

Created: 11 May 2016, 9:05 a.m.

Panel version: 0.106

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Expert Review Green

Phenotypes

Immunodeficiency, common variable, 13 616873

OMIM

603023

Clinvar variants

Variants in IKZF1

Penetrance

Complete

Publications

Panels with this gene

History Filter Activity

16 May 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen Thomas (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

13 May 2016, Gel status: 2