Renal and urinary tract disorders
Gene: CFI

CFI (complement factor I)
EnsemblGeneIds (GRCh38): ENSG00000205403
EnsemblGeneIds (GRCh37): ENSG00000205403
OMIM: 217030, Gene2Phenotype
CFI is in 7 panels

1 review

Sarah Leigh (Genomics England Curator)

Comment when marking as ready: Associated with phenotype in OMIM, not in G2P. Numerous variants reported
Created: 4 Aug 2016, 11:25 a.m.

Comment on phenotypes: Also associated with Complement factor I deficiency 610984 and {Macular degeneration, age-related, 13, susceptibility to} 615439
Created: 4 Aug 2016, 11:25 a.m.

Comment on list classification: Tier 1 gene for Primary Membranoproliferative Glomeruloneprhistis in BRIDGE Study
Created: 5 Jul 2016, 10:15 a.m.

Created: 5 Jul 2016, 10:15 a.m.

Panel version: Imported from End-stage renal disease - childhood onset panel version 0.134

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Expert Review Green

Phenotypes

Hemolytic uremic syndrome, atypical, susceptibility to, 3 612923

OMIM

217030

Clinvar variants

Variants in CFI

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

20 Dec 2018, Gel status: 4

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

Ellen McDonagh (Genomics England Curator)

gene: CFI was added gene: CFI was added to Renal and urinary tract disorders. Sources: Expert Review Green Mode of inheritance for gene: CFI was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: CFI were set to 15173250; 16621965 Phenotypes for gene: CFI were set to Hemolytic uremic syndrome, atypical, susceptibility to, 3 612923

Renal and urinary tract disorders Gene: CFI