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  2. Renal and urinary tract disorders
  3. CFB
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Renal and urinary tract disorders

Gene: CFB

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

1 review

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: Imported from End-stage renal disease - childhood onset panel version 0.140

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

30 Jan 2019, Gel status: 4

Panel promoted to version 1.0

Eleanor Williams (Genomics England Curator)

Sarah Leigh: Comment on list classification

30 Jan 2019, Gel status: 4

Set Phenotypes

Eleanor Williams (Genomics England Curator)

Phenotypes for gene: CFB were changed from Hemolytic uremic syndrome, atypical, susceptibility to, 4 to Hemolytic uremic syndrome, atypical, susceptibility to, 4 612924

20 Dec 2018, Gel status: 4

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

Ellen McDonagh (Genomics England Curator)

gene: CFB was added gene: CFB was added to Renal and urinary tract disorders. 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