COVID-19 research

Gene: IKZF1

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

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

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

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

• 29889099

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

Comment on list classification: Heterozygous missense variants cause common variable immunodeficiency.

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

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.