Complement Deficiencies
Gene: CFI

CFI (complement factor I)
EnsemblGeneIds (GRCh38): ENSG00000205403
EnsemblGeneIds (GRCh37): ENSG00000205403
OMIM: 217030, Gene2Phenotype
CFI is in 9 panels

1 review

Ain Roesley (Victorian Clinical Genetics Services)

Green List (high evidence)

Partial FI deficiency is associated with AD aHUS. Approximately 6% of aHUS cases are due to CFI (GeneReviews)
Created: 26 Apr 2022, 2:33 a.m. | Last Modified: 26 Apr 2022, 2:33 a.m.

Panel Version: 0.13289

Mode of inheritance
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal

Phenotypes
Complement factor I deficiency MIM#610984; {Hemolytic uremic syndrome, atypical, susceptibility to, 3} MIM#612923

Publications

Variants in this GENE are reported as part of current diagnostic practice

Created: 26 Apr 2022, 2:33 a.m.
Last Modified: 26 Apr 2022, 2:33 a.m.
Panel version: Imported from Mendeliome panel version 0.13289

Details

Mode of Inheritance

Unknown

Sources

Expert Review Green
Melbourne Genomics Health Alliance Immunology Flagship
Victorian Clinical Genetics Services
Expert Review Green

OMIM

217030

Clinvar variants

Variants in CFI

Penetrance

None

Panels with this gene

History Filter Activity

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: CFI was added gene: CFI was added to Complement deficiencies_MGHA_AGHA_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Immunology Flagship Mode of inheritance for gene: CFI was set to Unknown

Complement Deficiencies Gene: CFI