28 Feb 2020
Primary immunodeficiency or monogenic inflammatory bowel disease v2.27
CFB
Louise Daugherty changed review comment from: OriginaI Metadata from IUIS classification table (December, 2019). IUIS Genetic defect (original gene symbol in IUIS download): CFB .PanelApp HGNC gene symbol check: CFB . IUIS Disease: Factor B . IUIS Inheritance: AD .T cells: N/A, .B cells: N/A, .IUIS Other affected cells: N/A. IUIS Associated features: Atypical Hemolytic-uremic syndrome. IUIS Major category: Complement Deficiencies. IUIS Subcategory: N/A. // OriginaI Metadata from IUIS classification table (February, 2018) downloaded 20180614. IUIS Genetic defect (original gene symbol in IUIS download): CFB .PanelApp HGNC gene symbol check: CFB . IUIS Disease: Factor B . IUIS Inheritance: AD GOF / AR .T cells: Normal / Normal , .B cells: Normal / Normal, Immunoglobulin levels:Normal / Normal, Neutrophil count: Normal / Normal .IUIS Other affected cells: N/A. IUIS Associated features: Infections with encapsulated organisms. IUIS Major category: Complement Deficiencies. IUIS Subcategory: N/A.; to: OriginaI Metadata from IUIS classification table (December, 2019). IUIS Genetic defect (original gene symbol in IUIS download): CFB .PanelApp HGNC gene symbol check: CFB . IUIS Disease: Factor B . IUIS Inheritance: AD .T cells: N/A, .B cells: N/A, .IUIS Other affected cells: N/A. IUIS Associated features: Atypical Hemolytic-uremic syndrome. IUIS Major category: Complement Deficiencies. IUIS Subcategory: N/A. // OriginaI Metadata from IUIS classification table (February, 2018) downloaded 20180614. IUIS Genetic defect (original gene symbol in IUIS download): CFB .PanelApp HGNC gene symbol check: CFB . IUIS Disease: Factor B . IUIS Inheritance: AD GOF / AR .T cells: Normal / Normal , .B cells: Normal / Normal, Immunoglobulin levels:Normal / Normal, Neutrophil count: Normal / Normal .IUIS Other affected cells: N/A. IUIS Associated features: Infections with encapsulated organisms. IUIS Major category: Complement Deficiencies. IUIS Subcategory: N/A.
28 Feb 2020
Primary immunodeficiency or monogenic inflammatory bowel disease v2.27
CFB
Louise Daugherty commented on gene: CFB: OriginaI Metadata from IUIS classification table (December, 2019). IUIS Genetic defect (original gene symbol in IUIS download): CFB .PanelApp HGNC gene symbol check: CFB . IUIS Disease: Factor B . IUIS Inheritance: AD .T cells: N/A, .B cells: N/A, .IUIS Other affected cells: N/A. IUIS Associated features: Atypical Hemolytic-uremic syndrome. IUIS Major category: Complement Deficiencies. IUIS Subcategory: N/A. // OriginaI Metadata from IUIS classification table (February, 2018) downloaded 20180614. IUIS Genetic defect (original gene symbol in IUIS download): CFB .PanelApp HGNC gene symbol check: CFB . IUIS Disease: Factor B . IUIS Inheritance: AD GOF / AR .T cells: Normal / Normal , .B cells: Normal / Normal, Immunoglobulin levels:Normal / Normal, Neutrophil count: Normal / Normal .IUIS Other affected cells: N/A. IUIS Associated features: Infections with encapsulated organisms. IUIS Major category: Complement Deficiencies. IUIS Subcategory: N/A.
12 Nov 2019
Primary immunodeficiency or monogenic inflammatory bowel disease v1.137
CFB
Louise Daugherty commented on gene: CFB: Gene was flagged as requiring further clinical input from the Immunology Test Group, but no additional information was submitted to support the Green rating. In view of a lack of clear evidence the current recommendation is Amber.
26 Sep 2019
Primary immunodeficiency or monogenic inflammatory bowel disease v1.130
CFB
Louise Daugherty commented on gene: CFB: ?Complement factor B deficiency: one family, relevant phenotype - ?amber
17 Sep 2019
Primary immunodeficiency or monogenic inflammatory bowel disease v1.95
CFB
Louise Daugherty commented on gene: CFB: This is a relevant phenotype but there is not enough evidence in the literature to date (one case) and there has been no further evidence in terms of unpublished cases other than a Green rating recommendation from the Immunology Specialist Test Group. To remain Amber unless further supporting evidence from the Test Group
17 Sep 2019
Primary immunodeficiency or monogenic inflammatory bowel disease v1.95
CFB
Louise Daugherty edited their review of gene: CFB: Changed rating: AMBER
17 Sep 2019
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94
CFB
Louise Daugherty commented on gene: CFB: 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.
17 Sep 2019
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94
CFB
Louise Daugherty edited their review of gene: CFB: Added comment: 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.; Changed rating: GREEN
17 Sep 2019
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94
CFB
Kimberly Gilmour reviewed gene: CFB: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
17 Sep 2019
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94
CFB
Tracy Briggs reviewed gene: CFB: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
17 Sep 2019
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60
CFB
Louise Daugherty Source NHS GMS was added to CFB.
17 Sep 2019
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59
CFB
Louise Daugherty Source North West GLH was added to CFB.
17 Sep 2019
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58
CFB
Louise Daugherty Source London North GLH was added to CFB.
29 Mar 2019
Primary immunodeficiency or monogenic inflammatory bowel disease v1.30
CFB
Louise Daugherty Phenotypes for gene: CFB were changed from Complement factor B deficiency, 615561; Atypical Hemolytic-uremic syndrome; Infections with encapsulated organisms; Complement Deficiencies; Susceptibility to atypical haemolytic uraemic syndrome (4; AD); complement factor B deficiency (AR) to Complement factor B deficiency, 615561; Atypical Hemolytic-uremic syndrome; Infections with encapsulated organisms; Complement Deficiencies; Susceptibility to atypical haemolytic uraemic syndrome 4 (AD); complement factor B deficiency (AR)
11 Jul 2018
Primary immunodeficiency or monogenic inflammatory bowel disease
CFB
Louise Daugherty marked gene: CFB as ready
11 Jul 2018
Primary immunodeficiency or monogenic inflammatory bowel disease
CFB
Louise Daugherty commented on gene: CFB
03 Jul 2018
Primary immunodeficiency or monogenic inflammatory bowel disease
CFB
Louise Daugherty classified CFB as Amber List (moderate evidence)
02 Jul 2018
Primary immunodeficiency or monogenic inflammatory bowel disease
CFB
Louise Daugherty commented on gene: CFB
01 Jul 2018
Primary immunodeficiency or monogenic inflammatory bowel disease
CFB
Louise Daugherty classified CFB as Amber List (moderate evidence)
29 Jun 2018
Primary immunodeficiency or monogenic inflammatory bowel disease
CFB
Sophie Hambleton reviewed gene: CFB
11 Jun 2018
Primary immunodeficiency or monogenic inflammatory bowel disease
CFB
Louise Daugherty commented on gene: CFB
20 Apr 2018
Primary immunodeficiency or monogenic inflammatory bowel disease
CFB
Louise Daugherty commented on CFB
17 Apr 2018
Primary immunodeficiency or monogenic inflammatory bowel disease
CFB
Louise Daugherty commented on CFB
17 Apr 2018
Primary immunodeficiency or monogenic inflammatory bowel disease
CFB
Louise Daugherty commented on CFB
17 Apr 2018
Primary immunodeficiency or monogenic inflammatory bowel disease
CFB
Louise Daugherty reviewed CFB
17 Apr 2018
Primary immunodeficiency or monogenic inflammatory bowel disease
CFB
Louise Daugherty Added gene to panel
13 Apr 2018
Primary immunodeficiency or monogenic inflammatory bowel disease
CFB
Louise Daugherty Added gene to panel