COVID-19 research
Gene: IKBKBComment on mode of inheritance: Updated from 'biallelic' to 'both mono- and biallelic' as both inheritance patterns are associated with a relevant phenotype of primary immunodeficiency, but AR disease is more severe with earlier onset.Created: 30 Nov 2023, 12:20 p.m. | Last Modified: 30 Nov 2023, 12:20 p.m.
Panel Version: 1.139
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
Please note this recent publication reporting two patients from unrelated families with the same de novo heterozygous gain-of-function missense mutation. Mouse model recapitulated phenotype. Would suggest that both mono-allelic and bi-allelic variants should be assessed for pathogenicity.Created: 25 Oct 2018, 7:47 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
combined immune deficiency
Publications
Mode of pathogenicity
Other
Variants in this GENE are reported as part of current diagnostic practice
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
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): IKBKB .PanelApp HGNC gene symbol check: IKBKB . IUIS Disease: IKBKB deficiency . IUIS Inheritance: AR .T cells: N/A, .B cells: Nl number, poor function, .IUIS Other affected cells: N/A. IUIS Associated features: Recurrent bacterial, viral, fungal infections, opportunistic infections. IUIS Major category: Immunodeficiencies affecting cellular and humoral immunity. IUIS Subcategory: Combined Immunodeficiencies Generally Less Profound than Severe Combined ImmunodeficiencyCreated: 2 Jul 2018, 10:35 a.m.
Comment on list classification: Changed Amber to Green from external review and further publications to support gene-disease associationCreated: 21 Jun 2018, 12:51 p.m.
Comment on publications: added publication to support gene-disease associationCreated: 21 Jun 2018, 12:50 p.m.
This gene was absent from the original PanelApp PID panel dataset (review April 2018). However it was listed in external expert immunodeficiency diagnostic gene list(s) GOSH or GRID. In this combined PID panel, this gene has been rated as AMBER and needs further curational review to assess pertinence prior to v1.Created: 20 Apr 2018, 12:25 p.m.
Original metadata downloaded from ESID Registry. ESID_Gene_original: IKBKB, PanelApp HGNC gene symbol check: IKBKB, ESID classification: Main_category/ Sub_category/ PID_Diagnosis Combined immunodeficiencies / Combined immunodeficiency (CID) / Combined immunodeficiencyCreated: 17 Apr 2018, 12:29 p.m.
Original metadata supplied by GRID. GRID Gene Symbol HGNC PanelApp check: IKBKB, GRID_Gene_Symbol: IKBKB, GRID_Transcript_ENS_Community submitted: ENST00000520810, GRID_Transcript_RefSeq: NM_001556.2, GRID_Transcript_ENS_used_on_Production: ENST00000520810Created: 17 Apr 2018, 12:12 p.m.
Publications
Phenotypes for gene: IKBKB were changed from Immunodeficiency 15, 615592; Immunodeficiencies affecting cellular and humoral immunity; Combined immunodeficiency; Recurrent bacterial, viral, fungal infections, opportunistic infections to Immunodeficiency 15A, OMIM:618204 (AD); Immunodeficiency 15B, OMIM:615592 (AR); Combined immunodeficiency; Recurrent bacterial, viral, fungal infections, opportunistic infections; Immunodeficiencies affecting cellular and humoral immunity
Mode of inheritance for gene: IKBKB was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
gene: IKBKB was added gene: IKBKB 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,IUIS Classification February 2018 Mode of inheritance for gene: IKBKB was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: IKBKB were set to 25216719; 24369075; 30337470 Phenotypes for gene: IKBKB were set to Immunodeficiency 15, 615592; Immunodeficiencies affecting cellular and humoral immunity; Combined immunodeficiency; Recurrent bacterial, viral, fungal infections, opportunistic infections