Primary immunodeficiency or monogenic inflammatory bowel disease
Gene: CYBB
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
Mode of inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Added the tag ‘gene-therapy-trial’ as this gene is within the Gene Therapy Panel available here: https://panelapp.genomicsengland.co.uk/panels/412Created: 14 May 2018, 9:33 a.m.
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 associationCreated: 20 Jun 2018, 10:18 p.m.
Comment on publications: Added publications to support upgrading of the gene to GreenCreated: 20 Jun 2018, 10:18 p.m.
Comment on mode of inheritance: changed MOI from expert reviewCreated: 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: ENST00000378588Created: 17 Apr 2018, 12:12 p.m.
Source NHS GMS was added to CYBB.
Source North West GLH was added to CYBB.
Source London North GLH was added to CYBB.
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.
Gene: cybb has been classified as Green List (High Evidence).
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
All sources for gene: CYBB were removed
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
IUIS Classification February 2018 was added to CYBB. Panel: Primary immunodeficiency disorders
Victorian Clinical Genetics Services was added to CYBB. Panel: Primary immunodeficiency disorders
Gene: cybb has been classified as Green List (High Evidence).
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)
Gene: cybb has been classified as Green List (High Evidence).
Publications for gene: CYBB were set to 2556453; 1710153; 17293536
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
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)
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)
Expert Review Amber was added to CYBB. Panel: Primary immunodeficiency disorders
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)
Phenotypes for gene CYBB were set to Immunodeficiency 34, mycobacteriosis, X-linked, Chronic granulomatous disease, X-linked
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
CYBB Source: GOSH PID 20171145 was removed from gene: CYBB
GOSH PID v.8.0 was added to CYBB. Panel: Primary immunodeficiency disorders
CYBB was added to Primary immunodeficiency disorders panel. Sources: GOSH PID 20171145
CYBB was created by Louise Daugherty