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Primary immunodeficiency

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
  • NHS GMS
  • North West GLH
  • London North GLH
  • Expert Review Green
  • GOSH PID v.8.0
  • GRID V2.0
  • IUIS Classification February 2018
  • ESID Registry 20171117
  • Victorian Clinical Genetics Services
Phenotypes
  • Immunodeficiency 34, mycobacteriosis, X-linked, 300645
  • Chronic granulomatous disease, X-linked, 306400
  • Chronic granulomatous disease (CGD)
  • Defects with susceptibility to mycobacterial infection (MSMD)
  • Infections, autoinflammatory phenotype, IBD, McLeod phenotype in patients with deletions extending into the contiguous Kell locus
  • Congenital defects of phagocyte number or function
  • Isolated susceptibility to mycobacteria
  • Defects in Intrinsic and Innate Immunity
Tags
gene-therapy-trial
OMIM
300481
Clinvar variants
Variants in CYBB
Penetrance
None
Publications
Panels with this gene

History Filter Activity

17 Sep 2019, Gel status: 3

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to CYBB.

17 Sep 2019, Gel status: 3

Added New Source

Louise Daugherty (Genomics England Curator)

Source North West GLH was added to CYBB.

17 Sep 2019, Gel status: 3

Added New Source

Louise Daugherty (Genomics England Curator)

Source London North GLH was added to CYBB.

12 Jul 2018, Gel status: 3

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: 3

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

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

1 Jul 2018, Gel status: 1

Added New Source, Added New Source, Added New Source, Added New Source, Added New Source

Louise Daugherty (Genomics England Curator)

Victorian Clinical Genetics Services was added to CYBB. Panel: Primary immunodeficiency disorders ESID Registry 20171117 was added to CYBB. Panel: Primary immunodeficiency disorders IUIS Classification February 2018 was added to CYBB. Panel: Primary immunodeficiency disorders GRID V2.0 was added to CYBB. Panel: Primary immunodeficiency disorders GOSH PID v.8.0 was added to CYBB. Panel: Primary immunodeficiency disorders

1 Jul 2018, Gel status: 0

Clear Sources

Louise Daugherty (Genomics England Curator)

All sources for gene: CYBB were removed

1 Jul 2018, Gel status: 4

Removed Source, Removed Source, Removed Source, Removed Source, Removed Source, Added New Source, Set penetrance

Louise Daugherty (Genomics England Curator)

Source Victorian Clinical Genetics Services was removed from CYBB. Panel: Primary immunodeficiency disorders Source ESID Registry 20171117 was removed from CYBB. Panel: Primary immunodeficiency disorders Source IUIS Classification February 2018 was removed from CYBB. Panel: Primary immunodeficiency disorders Source GRID V2.0 was removed from CYBB. Panel: Primary immunodeficiency disorders Source GOSH PID v.8.0 was removed from CYBB. Panel: Primary immunodeficiency disorders Other was added to CYBB. Panel: Primary immunodeficiency disorders Phenotypes for gene CYBB were set to Immunodeficiency 34, mycobacteriosis, X-linked, 300645, Chronic granulomatous disease, X-linked, 306400, Chronic granulomatous disease (CGD), Defects with susceptibility to mycobacterial infection (MSMD), Infections, autoinflammatory phenotype, IBD, McLeod phenotype in patients with deletions extending into the contiguous Kell locus, Congenital defects of phagocyte number or function, Isolated susceptibility to mycobacteria, Defects in Intrinsic and Innate Immunity

26 Jun 2018, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

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

20 Jun 2018, Gel status: 3

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

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

20 Jun 2018, Gel status: 3

Set mode of inheritance

Louise Daugherty (Genomics England Curator)

Mode of inheritance for gene: CYBB was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

20 Jun 2018, Gel status: 3

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

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

20 Jun 2018, Gel status: 2

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene: CYBB were set to 2556453; 1710153; 17293536

20 Jun 2018, Gel status: 2

Set mode of inheritance

Louise Daugherty (Genomics England Curator)

Mode of inheritance for gene: CYBB was changed from X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) to X-LINKED: hemizygous mutation in males, biallelic mutations in females

20 Jun 2018, Gel status: 2

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for gene: CYBB were set to Immunodeficiency 34, mycobacteriosis, X-linked, 300645; Chronic granulomatous disease, X-linked, 306400; Chronic granulomatous disease (CGD); Defects with susceptibility to mycobacterial infection (MSMD)

20 Jun 2018, Gel status: 2

Set mode of inheritance

Louise Daugherty (Genomics England Curator)

Mode of inheritance for gene: CYBB was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

20 Apr 2018, Gel status: 2

Added New Source

Louise Daugherty (Genomics England Curator)

Expert Review Amber was added to CYBB. Panel: Primary immunodeficiency disorders

17 Apr 2018, Gel status: 1

Added New Source, Set penetrance

Louise Daugherty (Genomics England Curator)

ESID Registry 20171117 was added to CYBB. Panel: Primary immunodeficiency disorders Phenotypes for gene CYBB were set to Immunodeficiency 34, mycobacteriosis, X-linked, Chronic granulomatous disease, X-linked, Chronic granulomatous disease (CGD), Defects with susceptibility to mycobacterial infection (MSMD)

17 Apr 2018, Gel status: 1

Set penetrance

Louise Daugherty (Genomics England Curator)

Phenotypes for gene CYBB were set to Immunodeficiency 34, mycobacteriosis, X-linked, Chronic granulomatous disease, X-linked

17 Apr 2018, Gel status: 1

Added New Source, Set penetrance

Louise Daugherty (Genomics England Curator)

GRID V2.0 was added to CYBB. Panel: Primary immunodeficiency disorders Phenotypes for gene CYBB were set to Immunodeficiency 34, mycobacteriosis, X-linked, Chronic granulomatous disease, X-linked

6 Apr 2018, Gel status: 1

Clear Sources

Louise Daugherty (Genomics England Curator)

CYBB Source: GOSH PID 20171145 was removed from gene: CYBB

6 Apr 2018, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

GOSH PID v.8.0 was added to CYBB. Panel: Primary immunodeficiency disorders

29 Mar 2018, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

CYBB was added to Primary immunodeficiency disorders panel. Sources: GOSH PID 20171145

29 Mar 2018, Gel status: 1

Created

Louise Daugherty (Genomics England Curator)

CYBB was created by Louise Daugherty