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Newborns additional phenotypes panel 1

Gene: CFB

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

1 review

Mafalda Gomes (Genomics England Curator)

The mechanism of pathogenicity is gain-of-function (GOF).
Created: 1 Jun 2023, 2:40 p.m. | Last Modified: 1 Jun 2023, 2:40 p.m.
Panel Version: 0.29
Created: 1 Jun 2023, 2:40 p.m.
Last Modified: 1 Jun 2023, 2:40 p.m.
Panel version: 0.29

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
Phenotypes
  • Hemolytic uremic syndrome, atypical, susceptibility to, 4
OMIM
138470
Clinvar variants
Variants in CFB
Penetrance
None
Mode of Pathogenicity
Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Panels with this gene

History Filter Activity

14 Sep 2023, Gel status: 2

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes Hemolytic uremic syndrome, atypical, susceptibility to, 4 for gene: CFB

5 Jul 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 Hemolytic uremic syndrome, atypical, susceptibility to, 4 for gene: CFB Rating Changed from Red List (low evidence) to Amber List (moderate evidence)

31 May 2023, Gel status: 1

Removed Tag

Mafalda Gomes (Genomics England Curator)

Tag GOF was removed from gene: CFB.

31 May 2023, Gel status: 1

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Red was added to CFB. Added phenotypes Hemolytic uremic syndrome, atypical, susceptibility to, 4 for gene: CFB Rating Changed from No List (delete) to Red List (low evidence)

9 May 2023, Gel status: 0

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Phenotypes for gene: CFB were changed from Complement factor B deficiency to Hemolytic uremic syndrome, atypical, susceptibility to, 4

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

Added Tag

Mafalda Gomes (Genomics England Curator)

Tag GOF tag was added to gene: CFB.

9 Mar 2023, Gel status: 1

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

Mafalda Gomes (Genomics England Curator)

gene: CFB was added gene: CFB was added to Newborns additional phenotypes panel. Sources: Expert Review Red Mode of inheritance for gene: CFB was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: CFB were set to Complement factor B deficiency Mode of pathogenicity for gene: CFB was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments