Genes in panel
STRs in panel
Prev Next

Primary immunodeficiency

Gene: IKZF1

Green List (high evidence)

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

6 reviews

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
  • NHS GMS
  • North West GLH
  • London North GLH
  • IUIS Classification February 2018
  • Victorian Clinical Genetics Services
  • Expert Review Green
  • ESID Registry 20171117
  • GRID V2.0
  • A- or hypo-gammaglobulinaemia v1.25
Phenotypes
  • Immunodeficiency, common variable, 13, 616873
  • Immunodeficiency, common variable 13
  • IKAROS deficiency
  • Recurrent sinopulmonary infections
  • Predominantly Antibody Deficiencies
OMIM
603023
Clinvar variants
Variants in IKZF1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

28 Feb 2020, Gel status: 3

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene IKZF1 were updated from 21548011; 26981933 to 29889099; 21548011; 26981933

17 Sep 2019, Gel status: 3

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to IKZF1.

17 Sep 2019, Gel status: 3

Added New Source

Louise Daugherty (Genomics England Curator)

Source North West GLH was added to IKZF1.

17 Sep 2019, Gel status: 3

Added New Source

Louise Daugherty (Genomics England Curator)

Source London North GLH was added to IKZF1.

12 Jul 2018, Gel status: 4

Panel promoted to version 1.0

Louise Daugherty (Genomics England Curator)

2018-07-12 Louise Daugherty (Genomics England Curator) promoted panel to v1.0. Reviews were assessed, and panel was revised according to expert reviews and further in-house curation based on PanelApp guidelines. Previous panels (A- or hypo-gammaglobulinaemia, Congenital neutropaenia, Agranulocytosis, Combined B and T cell defect, Inherited complement deficiency and SCID panels) that were merged with this panel, were checked again for any changes/new reviews prior to versioning of this panel, these merged panels are now retired/made internal.

1 Jul 2018, Gel status: 4

Set penetrance

Louise Daugherty (Genomics England Curator)

Phenotypes for gene IKZF1 were set to Immunodeficiency, common variable, 13, 616873, Immunodeficiency, common variable 13, IKAROS deficiency, Recurrent sinopulmonary infections, Predominantly Antibody Deficiencies

26 Jun 2018, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

IUIS Classification February 2018 was added to IKZF1. Panel: Primary immunodeficiency disorders

26 Jun 2018, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

Victorian Clinical Genetics Services was added to IKZF1. Panel: Primary immunodeficiency disorders

13 Jun 2018, Gel status: 4

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

Gene: ikzf1 has been classified as Green List (High Evidence).

13 Jun 2018, Gel status: 4

Set mode of inheritance

Louise Daugherty (Genomics England Curator)

Mode of inheritance for gene: IKZF1 was changed from BIALLELIC, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

17 Apr 2018, Gel status: 4

Added New Source, Set penetrance

Louise Daugherty (Genomics England Curator)

ESID Registry 20171117 was added to IKZF1. Panel: Primary immunodeficiency disorders Phenotypes for gene IKZF1 were set to Immunodeficiency, common variable, 13, 616873, Immunodeficiency, common variable 13, IKAROS deficiency

17 Apr 2018, Gel status: 4

Set penetrance

Louise Daugherty (Genomics England Curator)

Phenotypes for gene IKZF1 were set to Immunodeficiency, common variable, 13, 616873, Immunodeficiency, common variable 13

17 Apr 2018, Gel status: 4

Added New Source, Set mode of inheritance, Set penetrance

Louise Daugherty (Genomics England Curator)

GRID V2.0 was added to IKZF1. Panel: Primary immunodeficiency disorders Model of inheritance for gene IKZF1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene IKZF1 were set to Immunodeficiency, common variable, 13, 616873, Immunodeficiency, common variable 13

29 Mar 2018, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

IKZF1 was added to Primary immunodeficiency disorders panel. Sources: Expert Review Green, A- or hypo-gammaglobulinaemia v1.25

29 Mar 2018, Gel status: 4

Created

Louise Daugherty (Genomics England Curator)

IKZF1 was created by Louise Daugherty