Unexplained kidney failure in young people
Gene: CFB

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

2 reviews

Eleanor Williams (Genomics England Curator)

Comment on mode of inheritance: 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, 11:09 a.m. | Last Modified: 14 Oct 2021, 11:09 a.m.

Panel Version: 1.97

Created: 14 Oct 2021, 11:09 a.m.
Last Modified: 14 Oct 2021, 11:09 a.m.
Panel version: 1.97

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.

Created: 5 Jul 2016, 11:40 a.m.

Panel version: 0.140

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Expert Review Green
Expert list
UKGTN
Expert Review
Illumina TruGenome Clinical Sequencing Services

Phenotypes

Hemolytic uremic syndrome, atypical, susceptibility to, 4 612924

OMIM

138470

Clinvar variants

Variants in CFB

Penetrance

Complete

Publications

Panels with this gene

History Filter Activity

14 Oct 2021, Gel status: 3

Set mode of inheritance

Eleanor Williams (Genomics England Curator)

Mode of inheritance for gene: CFB was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

17 Aug 2016, Gel status: 4