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COVID-19 research

Gene: CYBB

Green List (high evidence)

CYBB (cytochrome b-245 beta chain)
EnsemblGeneIds (GRCh38): ENSG00000165168
EnsemblGeneIds (GRCh37): ENSG00000165168
OMIM: 300481, Gene2Phenotype
CYBB is in 9 panels

5 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)

Mode of inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

Ellen McDonagh (Genomics England Curator)

Added the tag ‘gene-therapy-trial’ as this gene is within the Gene Therapy Panel available here: https://panelapp.genomicsengland.co.uk/panels/412
Created: 14 May 2018, 9:33 a.m.

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): CYBB .PanelApp HGNC gene symbol check: CYBB . IUIS Disease: X-linked chronic granulomatous disease (CGD), gp91phox . IUIS Inheritance: XL .T cells: N/A, .B cells: N/A, .IUIS Other affected cells: N + M. IUIS Associated features: Infections, autoinflammatory phenotype, IBD, McLeod phenotype in patients with deletions extending into the contiguous Kell locus. IUIS Major category: Congenital defects of phagocyte number or function. IUIS Subcategory: Defects of Respiratory Burst. // OriginaI Metadata from IUIS classification table (February, 2018) downloaded 20180614. IUIS Genetic defect (original gene symbol in IUIS download): CYBB .PanelApp HGNC gene symbol check: CYBB . IUIS Disease: Macrophage gp91 phox deficiency . IUIS Inheritance: XL .T cells: N/A, .B cells: N/A, .IUIS Other affected cells: Macropahge only. IUIS Associated features: Isolated susceptibility to mycobacteria. IUIS Major category: Defects in Intrinsic and Innate Immunity. IUIS Subcategory: Mendelian Susceptibility to mycobacterial disease (MSMD).
Created: 2 Jul 2018, 10:51 a.m.
Comment on list classification: Changed Amber to Green from external review comment and further publications to support gene-disease association
Created: 20 Jun 2018, 10:18 p.m.
Comment on publications: Added publications to support upgrading of the gene to Green
Created: 20 Jun 2018, 10:18 p.m.
Comment on mode of inheritance: changed MOI from expert review
Created: 20 Jun 2018, 10:12 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: GP91-phox(CYBB), PanelApp HGNC gene symbol check: CYBB, ESID classification: Main_category/ Sub_category/ PID_Diagnosis Phagocytic disorders / Chronic granulomatous disease (CGD) / Chronic granulomatous disease (CGD); Phagocytic disorders / Defects with susceptibility to mycobacterial infection (MSMD) / Defects with susceptibility to mycobacterial infection (MSMD)
Created: 17 Apr 2018, 12:29 p.m.
Original metadata supplied by GRID. GRID Gene Symbol HGNC PanelApp check: CYBB, GRID_Gene_Symbol: CYBB, GRID_Transcript_ENS_Community submitted: ENST00000378588, GRID_Transcript_RefSeq: NM_000397.3, GRID_Transcript_ENS_used_on_Production: ENST00000378588
Created: 17 Apr 2018, 12:12 p.m.

Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
Phenotypes
  • Chronic granulomatous disease, X-linked, 306400
  • Defects with susceptibility to mycobacterial infection (MSMD)
  • Congenital defects of phagocyte number or function
  • Immunodeficiency 34, mycobacteriosis, X-linked, 300645
  • Chronic granulomatous disease (CGD)
  • Isolated susceptibility to mycobacteria
  • Infections, autoinflammatory phenotype, IBD, McLeod phenotype in patients with deletions extending into the contiguous Kell locus
  • Defects in Intrinsic and Innate Immunity
OMIM
300481
Clinvar variants
Variants in CYBB
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: CYBB was added gene: CYBB 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: CYBB was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Publications for gene: CYBB were set to 1710153; 2556453; 17293536 Phenotypes for gene: CYBB were set to Chronic granulomatous disease, X-linked, 306400; Defects with susceptibility to mycobacterial infection (MSMD); Congenital defects of phagocyte number or function; Immunodeficiency 34, mycobacteriosis, X-linked, 300645; Chronic granulomatous disease (CGD); Isolated susceptibility to mycobacteria; Infections, autoinflammatory phenotype, IBD, McLeod phenotype in patients with deletions extending into the contiguous Kell locus; Defects in Intrinsic and Innate Immunity