Genes in panel
STRs in panel
Prev Next

Unexplained paediatric onset end-stage renal disease

Gene: CFB

Green List (high evidence)

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

2 reviews

Eleanor Williams (Genomics England Curator)

I don't know

In OMIM this gene is also provisionally associated with Complement factor B deficiency based on evidence from one family with biallelic variants in CFB. However, given the phenotype/level of evidence it is not appropriate to change the mode of inheritance to Both monoallelic and biallelic on this panel.
Created: 14 Oct 2021, 11:10 a.m. | Last Modified: 14 Oct 2021, 11:10 a.m.
Panel Version: 1.20
Gene imported from the 'Renal and urinary tract disorders' panel v1.8 with a rating of Green
Created: 9 Apr 2019, 11:17 a.m.

Sarah Leigh (Genomics England Curator)

Comment when marking as ready: Associated with phenotype in OMIM, not in G2P. At least three variants reported
Created: 4 Aug 2016, 11:14 a.m.
Comment on phenotypes: Also associated with Complement factor B deficiency 615561 and {Macular degeneration, age-related, 14, reduced risk of} 615489
Created: 4 Aug 2016, 11:13 a.m.
Comment on list classification: Tier 1 gene for Primary Membranoproliferative Glomeruloneprhistis in BRIDGE Study
Created: 5 Jul 2016, 11:40 a.m.

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
Phenotypes
  • Hemolytic uremic syndrome, atypical, susceptibility to, 4 612924
OMIM
138470
Clinvar variants
Variants in CFB
Penetrance
None
Publications
Panels with this gene

History Filter Activity

9 Apr 2019, Gel status: 4

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

Eleanor Williams (Genomics England Curator)

gene: CFB was added gene: CFB was added to Unexplained paediatric onset end-stage renal disease. Sources: Expert Review Green Mode of inheritance for gene: CFB was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: CFB were set to 17182750; 20108004 Phenotypes for gene: CFB were set to Hemolytic uremic syndrome, atypical, susceptibility to, 4 612924