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Newborns main panel

Gene: CFB

Amber List (moderate evidence)
CFB (complement factor B)
EnsemblGeneIds (GRCh38): ENSG00000243649
EnsemblGeneIds (GRCh37): ENSG00000243649
OMIM: 138470, Gene2Phenotype
CFB is in 6 panels

2 reviews

Arina Puzriakova (Genomics England Curator)

Special Consideration: Gene removed from study but not the pipeline.

Additional Information: A decision was made to remove this gene from the study. Variants should be ignored while the gene is being removed from the pipeline.
Created: 15 Oct 2025, 2:47 p.m. | Last Modified: 15 Oct 2025, 2:47 p.m.
Panel Version: 0.480
Special Consideration: Do not report GOF variants.
Created: 25 Sep 2024, 3:58 p.m. | Last Modified: 25 Sep 2024, 3:58 p.m.
Panel Version: 0.469
Created: 25 Sep 2024, 3:58 p.m.
Last Modified: 25 Sep 2024, 3:58 p.m.
Panel version: 0.480

Mafalda Gomes (Genomics England Curator)

The mechanism of pathogenicity is loss-of-function (LOF).
Created: 1 Jun 2023, 2:40 p.m. | Last Modified: 1 Jun 2023, 2:40 p.m.
Panel Version: 0.137
PMID: 33165708 - 1 case. PMID: 24152280 - 1 case
Created: 1 Jun 2023, 12:22 p.m. | Last Modified: 1 Jun 2023, 12:22 p.m.
Panel Version: 0.134
Created: 1 Jun 2023, 12:22 p.m.
Last Modified: 1 Jun 2023, 12:22 p.m.
Panel version: 0.137

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • Complement factor B deficiency
Tags
special_consideration condition_removed
OMIM
138470
Clinvar variants
Variants in CFB
Penetrance
None
Panels with this gene

History Filter Activity

24 Nov 2025, Gel status: 2

Entity classified by Genomics England curator

Arina Puzriakova (Genomics England Curator)

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

15 Oct 2025, Gel status: 3

Added Tag

Arina Puzriakova (Genomics England Curator)

Tag condition_removed tag was added to gene: CFB.

25 Sep 2024, Gel status: 3

Added Tag

Arina Puzriakova (Genomics England Curator)

Tag special_consideration tag was added to gene: CFB.

14 Sep 2023, Gel status: 3

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes Complement factor B deficiency for gene: CFB

5 Jul 2023, Gel status: 3

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Green was added to CFB. Added phenotypes Complement factor B deficiency for gene: CFB Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

31 May 2023, Gel status: 2

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Amber was added to CFB. Added phenotypes Complement factor B deficiency for gene: CFB Rating Changed from Green List (high evidence) to Amber List (moderate evidence)

15 May 2023, Gel status: 3

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes Complement factor B deficiency for gene: CFB

9 May 2023, Gel status: 3

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Phenotypes for gene: CFB were changed from Susceptibility to atypical hemolytic uremic syndrome- 4; Complement factor B deficiency to Complement factor B deficiency

9 May 2023, Gel status: 3

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Green was added to CFB. Added phenotypes Complement factor B deficiency for gene: CFB Rating Changed from No List (delete) to Green List (high evidence)

5 May 2023, Gel status: 0

Added New Source, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Removed was added to CFB. Rating Changed from Red List (low evidence) to No List (delete)

9 Mar 2023, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Mafalda Gomes (Genomics England Curator)

gene: CFB was added gene: CFB was added to Newborns main panel. Sources: Expert Review Red Mode of inheritance for gene: CFB was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CFB were set to Susceptibility to atypical hemolytic uremic syndrome- 4