Primary immunodeficiency or monogenic inflammatory bowel disease
Gene: IKZF1
agree with green geneCreated: 17 Sep 2019, 3:18 p.m. | Last Modified: 17 Sep 2019, 3:18 p.m.
Panel Version: 1.94
YES- this is covered on our targeted exomeCreated: 17 Sep 2019, 3:18 p.m. | Last Modified: 17 Sep 2019, 3:18 p.m.
Panel Version: 1.94
Added publication referenced by IUIS december 2019 updateCreated: 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 PhenotypeCreated: 2 Jul 2018, 10:35 a.m.
Comment on mode of inheritance: updated MOI from re-review and expert reviewCreated: 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 deficiencyCreated: 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: ENST00000439701Created: 17 Apr 2018, 12:12 p.m.
Publications
"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.
Publications for gene IKZF1 were updated from 21548011; 26981933 to 29889099; 21548011; 26981933
Source NHS GMS was added to IKZF1.
Source North West GLH was added to IKZF1.
Source London North GLH was added to IKZF1.
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.
Phenotypes for gene IKZF1 were set to Immunodeficiency, common variable, 13, 616873, Immunodeficiency, common variable 13, IKAROS deficiency, Recurrent sinopulmonary infections, Predominantly Antibody Deficiencies
IUIS Classification February 2018 was added to IKZF1. Panel: Primary immunodeficiency disorders
Victorian Clinical Genetics Services was added to IKZF1. Panel: Primary immunodeficiency disorders
Gene: ikzf1 has been classified as Green List (High Evidence).
Mode of inheritance for gene: IKZF1 was changed from BIALLELIC, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
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
Phenotypes for gene IKZF1 were set to Immunodeficiency, common variable, 13, 616873, Immunodeficiency, common variable 13
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
IKZF1 was added to Primary immunodeficiency disorders panel. Sources: Expert Review Green, A- or hypo-gammaglobulinaemia v1.25
IKZF1 was created by Louise Daugherty