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Primary immunodeficiency

Gene: CFB

Amber List (moderate evidence)

CFB (complement factor B)
EnsemblGeneIds (GRCh38): ENSG00000243649
EnsemblGeneIds (GRCh37): ENSG00000243649
OMIM: 138470, Gene2Phenotype
CFB is in 8 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)

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Susceptibility to atypical haemolytic uraemic syndrome (4; AD); complement factor B deficiency (AR)

Louise Daugherty (Genomics England Curator)

I don't know

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.
Created: 28 Feb 2020, 4:32 p.m. | Last Modified: 28 Feb 2020, 4:37 p.m.
Panel Version: 2.27
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.
Created: 12 Nov 2019, 5:01 p.m. | Last Modified: 12 Nov 2019, 5:01 p.m.
Panel Version: 1.137
?Complement factor B deficiency: one family, relevant phenotype - ?amber
Created: 26 Sep 2019, 3:51 p.m. | Last Modified: 26 Sep 2019, 3:51 p.m.
Panel Version: 1.130
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
Created: 17 Sep 2019, 4:50 p.m. | Last Modified: 17 Sep 2019, 4:50 p.m.
Panel Version: 1.95
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
One family reported, therefore left Amber until further evidence to support Green rating by external expert
Created: 11 Jul 2018, 4:11 p.m.
Comment on phenotypes: added phenotypes and specific MOI as suggested by expert review
Created: 2 Jul 2018, 3:50 p.m.
Comment on mode of inheritance: changed MOI from expert review and review of IUIS data
Created: 2 Jul 2018, 3:49 p.m.
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 .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: AR .T cells: N/A, .B cells: N/A, .IUIS Other affected cells: N/A. IUIS Associated features: Infections with encapsulated organisms. IUIS Major category: Complement Deficiencies. IUIS Subcategory: N/A.
Created: 2 Jul 2018, 10:50 a.m.
Currently only one report of this deficiency in humans, reviewed and decided to keep amber until more info on gene and disease association.
Created: 11 Jun 2018, 9:06 a.m.
Comment on publications: Added publication Slade et al. (2013) PMID:2415220. Only one affected (1 family) reported to date in which a 32-year-old woman, born of unrelated parents of English and Scottish origin, with complement factor B deficiency (CFBD; 615561) manifest as recurrent systemic infections with encapsulated bacteria since early childhood, Slade et al. (2013) identified compound heterozygous mutations in the CFB gene: a c.766C-T transition in exon 6, resulting in a gln256-to-ter (Q256X) substitution, and a 4-bp deletion (c.1894_1987delTTTG; 138470.0008) in exon 15, resulting in a frameshift and premature termination (Phe632CysfsTer8). Laboratory studies showed normal immunoglobulins and lymphocytes, but functional ELISA showed that the alternative complement pathway was inactive. The defect was not complemented by factor B-depleted serum, and factor B was undetectable by radial immunodiffusion. The mutations were found by genome sequencing of the CFB gene and segregated with the disorder in the family.
Created: 11 Jun 2018, 9:03 a.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: Factor B, PanelApp HGNC gene symbol check: CFB, ESID classification: Main_category/ Sub_category/ PID_Diagnosis Complement deficiencies / Complement deficiency / Complement factor B deficiency
Created: 17 Apr 2018, 12:29 p.m.
Original metadata supplied by GRID. GRID Gene Symbol HGNC PanelApp check: CFB, GRID_Gene_Symbol: CFB, GRID_Transcript_ENS_Community submitted: ENST00000425368, GRID_Transcript_RefSeq: NM_001710.5, GRID_Transcript_ENS_used_on_Production: ENST00000425368
Created: 17 Apr 2018, 12:12 p.m.

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • North West GLH
  • London North GLH
  • Expert Review Amber
  • ESID Registry 20171117
  • GRID V2.0
  • Victorian Clinical Genetics Services
  • IUIS Classification February 2018
Phenotypes
  • 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)
OMIM
138470
Clinvar variants
Variants in CFB
Penetrance
None
Publications
Panels with this gene

History Filter Activity

17 Sep 2019, Gel status: 2

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to CFB.

17 Sep 2019, Gel status: 2

Added New Source

Louise Daugherty (Genomics England Curator)

Source North West GLH was added to CFB.

17 Sep 2019, Gel status: 2

Added New Source

Louise Daugherty (Genomics England Curator)

Source London North GLH was added to CFB.

29 Mar 2019, Gel status: 2

Set Phenotypes

Louise Daugherty (Genomics England Curator)

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)

12 Jul 2018, Gel status: 2

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.

11 Jul 2018, Gel status: 2

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

Gene: cfb has been classified as Amber List (Moderate Evidence).

3 Jul 2018, Gel status: 2

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

Gene: cfb has been classified as Amber List (Moderate Evidence).

2 Jul 2018, Gel status: 2

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for gene: CFB were set 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)

2 Jul 2018, Gel status: 2

Set mode of inheritance

Louise Daugherty (Genomics England Curator)

Mode of inheritance for gene: CFB was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

1 Jul 2018, Gel status: 2

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

Gene: cfb has been classified as Amber List (Moderate Evidence).

1 Jul 2018, Gel status: 1

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

Louise Daugherty (Genomics England Curator)

IUIS Classification February 2018 was added to CFB. Panel: Primary immunodeficiency disorders Victorian Clinical Genetics Services was added to CFB. Panel: Primary immunodeficiency disorders GRID V2.0 was added to CFB. Panel: Primary immunodeficiency disorders ESID Registry 20171117 was added to CFB. Panel: Primary immunodeficiency disorders

1 Jul 2018, Gel status: 0

Clear Sources

Louise Daugherty (Genomics England Curator)

All sources for gene: CFB were removed

1 Jul 2018, Gel status: 2

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

Louise Daugherty (Genomics England Curator)

Source IUIS Classification February 2018 was removed from CFB. Panel: Primary immunodeficiency disorders Source Victorian Clinical Genetics Services was removed from CFB. Panel: Primary immunodeficiency disorders Source GRID V2.0 was removed from CFB. Panel: Primary immunodeficiency disorders Source ESID Registry 20171117 was removed from CFB. Panel: Primary immunodeficiency disorders Other was added to CFB. Panel: Primary immunodeficiency disorders Phenotypes for gene CFB were set to Complement factor B deficiency, 615561, Atypical Hemolytic-uremic syndrome, Infections with encapsulated organisms, Complement Deficiencies

26 Jun 2018, Gel status: 2

Added New Source

Louise Daugherty (Genomics England Curator)

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

26 Jun 2018, Gel status: 2

Added New Source

Louise Daugherty (Genomics England Curator)

Victorian Clinical Genetics Services was added to CFB. Panel: Primary immunodeficiency disorders

11 Jun 2018, Gel status: 2

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene: CFB were set to 24152280; 4109808

11 Jun 2018, Gel status: 2

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for gene: CFB were set to Complement factor B deficiency, 615561

11 Jun 2018, Gel status: 2

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene: CFB were set to 24152280

20 Apr 2018, Gel status: 2

Added New Source

Louise Daugherty (Genomics England Curator)

Expert Review Amber was added to CFB. 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 CFB. Panel: Primary immunodeficiency disorders Phenotypes for gene CFB were set to Complement factor B deficiency

17 Apr 2018, Gel status: 1

Set penetrance

Louise Daugherty (Genomics England Curator)

Phenotypes for gene CFB were set to Complement factor B deficiency

17 Apr 2018, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

CFB was added to Primary immunodeficiency disorders panel. Sources: GRID V2.0

17 Apr 2018, Gel status: 1

Created

Louise Daugherty (Genomics England Curator)

CFB was created by Louise Daugherty