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STRs in panel
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COVID-19 research

Gene: IKZF1

Green List (high evidence)

IKZF1 (IKAROS family zinc finger 1)
EnsemblGeneIds (GRCh38): ENSG00000185811
EnsemblGeneIds (GRCh37): ENSG00000185811
OMIM: 603023, Gene2Phenotype
IKZF1 is in 5 panels

7 reviews

Ivone Leong (Genomics England Curator)

Green List (high evidence)

IUIS: Inheritance - AD dominant negative and AD haploinsufficiency
Created: 15 Apr 2020, 12:09 p.m. | Last Modified: 15 Apr 2020, 12:09 p.m.
Panel Version: 0.103

Kimberly Gilmour (Great Ormond Street Hopsital)

Green List (high evidence)

agree with green gene
Created: 17 Sep 2019, 3:18 p.m. | Last Modified: 17 Sep 2019, 3:18 p.m.
Panel Version: 1.94

Tracy Briggs (Manchester Genomic Medicine Centre)

Green List (high evidence)

YES- this is covered on our targeted exome
Created: 17 Sep 2019, 3:18 p.m. | Last Modified: 17 Sep 2019, 3:18 p.m.
Panel Version: 1.94

Louise Daugherty (Genomics England Curator)

I don't know

Added publication referenced by IUIS december 2019 update
Created: 28 Feb 2020, 8:49 p.m. | Last Modified: 28 Feb 2020, 8:49 p.m.
Panel Version: 2.36
Gene rating submitted by Kimberly Gilmour and Austen Worth on behalf of London North GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email 6th September the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Created: 17 Sep 2019, 3:18 p.m. | Last Modified: 17 Sep 2019, 3:18 p.m.
Panel Version: 1.94
Gene rating submitted by Tracy Briggs, David Gokhale and Abigal Rousseau on behalf of North West GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email on 20th June the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Created: 17 Sep 2019, 3:18 p.m. | Last Modified: 17 Sep 2019, 3:18 p.m.
Panel Version: 1.94
OriginaI Metadata from IUIS classification table (February, 2018) downloaded 20180614. IUIS Genetic defect (original gene symbol in IUIS download): IKZF1 .PanelApp HGNC gene symbol check: IKZF1 . IUIS Disease: IKAROS deficiency . IUIS Inheritance: AD .T cells: N/A, .B cells: N/A, .IUIS Other affected cells: N/A. IUIS Associated features: Recurrent sinopulmonary infections. IUIS Major category: Predominantly Antibody Deficiencies. IUIS Subcategory: Severe Reduction in at Least 2 Serum Immunoglobulin Isotypes with Normal or Low Number of B Cells, CVID Phenotype
Created: 2 Jul 2018, 10:35 a.m.
Comment on mode of inheritance: updated MOI from re-review and expert review
Created: 13 Jun 2018, 2:28 p.m.
Original metadata downloaded from ESID Registry. ESID_Gene_original: IKAROS, PanelApp HGNC gene symbol check: IKZF1, ESID classification: Main_category/ Sub_category/ PID_Diagnosis Other well defined PIDs / IKAROS deficiency / IKAROS deficiency
Created: 17 Apr 2018, 12:29 p.m.
Original metadata supplied by GRID. GRID Gene Symbol HGNC PanelApp check: IKZF1, GRID_Gene_Symbol: IKZF1, GRID_Transcript_ENS_Community submitted: ENST00000439701, GRID_Transcript_RefSeq: NM_006060.5, GRID_Transcript_ENS_used_on_Production: ENST00000439701
Created: 17 Apr 2018, 12:12 p.m.

Publications

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

Ellen Thomas (Genomics England Curator)

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

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.

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
Phenotypes
  • Immunodeficiency, common variable, 13, 616873
  • IKAROS deficiency
  • Immunodeficiency, common variable 13
  • Predominantly Antibody Deficiencies
  • Recurrent sinopulmonary infections
OMIM
603023
Clinvar variants
Variants in IKZF1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

1 Apr 2020, Gel status: 3

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

Ellen McDonagh (Genomics England Curator)

gene: IKZF1 was added gene: IKZF1 was added to Viral susceptibility. Sources: Expert Review Green,ESID Registry 20171117,North West GLH,Victorian Clinical Genetics Services,GRID V2.0,NHS GMS,London North GLH,A- or hypo-gammaglobulinaemia v1.25,IUIS Classification February 2018 Mode of inheritance for gene: IKZF1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: IKZF1 were set to 29889099; 21548011; 26981933 Phenotypes for gene: IKZF1 were set to Immunodeficiency, common variable, 13, 616873; IKAROS deficiency; Immunodeficiency, common variable 13; Predominantly Antibody Deficiencies; Recurrent sinopulmonary infections