Genes in panel
Regions in panel
Prev Next

Mendeliome

Gene: CFI

Green List (high evidence)

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

Details

Mode of Inheritance
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Complement factor I deficiency MIM#610984
  • {Hemolytic uremic syndrome, atypical, susceptibility to, 3} MIM#612923
OMIM
217030
Clinvar variants
Variants in CFI
Penetrance
None
Publications
Panels with this gene

History Filter Activity

26 Apr 2022, Gel status: 3

Entity classified by Genomics England curator

Ain Roesley (Victorian Clinical Genetics Services)

Gene: cfi has been classified as Green List (High Evidence).

26 Apr 2022, Gel status: 3

Entity classified by Genomics England curator

Ain Roesley (Victorian Clinical Genetics Services)

Gene: cfi has been classified as Green List (High Evidence).

26 Apr 2022, Gel status: 3

Set Phenotypes

Ain Roesley (Victorian Clinical Genetics Services)

Phenotypes for gene: CFI were changed from to Complement factor I deficiency MIM#610984; {Hemolytic uremic syndrome, atypical, susceptibility to, 3} MIM#612923

26 Apr 2022, Gel status: 3

Set publications

Ain Roesley (Victorian Clinical Genetics Services)

Publications for gene: CFI were set to

26 Apr 2022, Gel status: 3

Set mode of inheritance

Ain Roesley (Victorian Clinical Genetics Services)

Mode of inheritance for gene: CFI was changed from Unknown to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal

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 Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: CFI was set to Unknown