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COVID-19 research

Gene: IKBKG

Green List (high evidence)

IKBKG (inhibitor of nuclear factor kappa B kinase subunit gamma)
EnsemblGeneIds (GRCh38): ENSG00000269335
EnsemblGeneIds (GRCh37): ENSG00000073009
OMIM: 300248, Gene2Phenotype
IKBKG is in 19 panels

4 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

Sophie Hambleton (Newcastle University)

Green List (high evidence)

Louise Daugherty (Genomics England Curator)

Green List (high evidence)

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): NEMO (IKBKG) .PanelApp HGNC gene symbol check: IKBKG . IUIS Disease: EDA-ID due to NEMO /IKBKG deficiency (ectodermal dysplasia, immune deficiency) . IUIS Inheritance: XL .T cells: Normal, .B cells: Normal, Low memory and isotype switched B cells, .IUIS Other affected cells: N/A. IUIS Associated features: Anhidrotic ectodermal dysplasia (in some), various infections (bacteria, mycobacteria, viruses and fungi), colitis, conical teeth, variable defects of skin, hair and teeth, monocyte dysfunction. IUIS Major category: Combined immunodeficiencies with associated or syndromic features. IUIS Subcategory: Anhidrotic Ectodermodysplasia with Immunodeficiency (EDA-ID)
Created: 2 Jul 2018, 10:35 a.m.
Comment on list classification: Changed Amber to Green from external review
Created: 20 Jun 2018, 10:10 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: IKK-gamma (NEMO, IKBKG), PanelApp HGNC gene symbol check: IKBKG, ESID classification: Main_category/ Sub_category/ PID_Diagnosis Defects in innate immunity / Defects of TLR/NFkappa-B signalling / Defects of TLR/NFkappa-B signalling
Created: 17 Apr 2018, 12:29 p.m.
Original metadata supplied by GRID. GRID Gene Symbol HGNC PanelApp check: IKBKG, GRID_Gene_Symbol: IKBKG, GRID_Transcript_ENS_Community submitted: ENST00000369609, GRID_Transcript_RefSeq: NM_001099857.2, GRID_Transcript_ENS_used_on_Production: ENST00000369609
Created: 17 Apr 2018, 12:12 p.m.

Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
Phenotypes
  • Ectodermal, dysplasia, anhidrotic, lymphedema and immunodeficiency, 300301
  • Immunodeficiency 33, 300636
  • Invasive pneumococcal disease, recurrent isolated, 2,300640
  • Defects of TLR/NFkappa-B signalling
  • Anhidrotic ectodermal dysplasia (in some), various infections (bacteria, mycobacteria, viruses and fungi), colitis, conical teeth, variable defects of skin, hair and teeth, monocyte dysfunction
  • Ectodermal dysplasia, hypohidrotic, with immune deficiency 300291
  • Combined immunodeficiencies with associated or syndromic features
  • Immunodeficiency, isolated, 300584
OMIM
300248
Clinvar variants
Variants in IKBKG
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: IKBKG was added gene: IKBKG was added to Viral susceptibility. Sources: Expert Review Green,ESID Registry 20171117,North West GLH,Victorian Clinical Genetics Services,GRID V2.0,NHS GMS,GOSH PID v.8.0,London North GLH,IUIS Classification February 2018 Mode of inheritance for gene: IKBKG was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: IKBKG were set to 11047757 Phenotypes for gene: IKBKG were set to Ectodermal, dysplasia, anhidrotic, lymphedema and immunodeficiency, 300301; Immunodeficiency 33, 300636; Invasive pneumococcal disease, recurrent isolated, 2,300640; Defects of TLR/NFkappa-B signalling; Anhidrotic ectodermal dysplasia (in some), various infections (bacteria, mycobacteria, viruses and fungi), colitis, conical teeth, variable defects of skin, hair and teeth, monocyte dysfunction; Ectodermal dysplasia, hypohidrotic, with immune deficiency 300291; Combined immunodeficiencies with associated or syndromic features; Immunodeficiency, isolated, 300584