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Prepair 1000+

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

Michelle Torres (Victorian Clinical Genetics Services)

Green List (high evidence)

The CFI gene is associated with both AD & AR conditions (OMIM).

For carrier screening testing, the only relevant condition is AR Complement factor I deficiency MIM#610984.

Predisposition to severe early infections (PMID: 28942469). Onset is in childhood and rarely patients are asymptomatic (OMIM). Heterozygotes may be at increased risk for infection or atypical hemolytic uremic syndrome (OMIM).
Created: 6 Jan 2025, 5:46 a.m. | Last Modified: 6 Jan 2025, 5:46 a.m.
Panel Version: 1.992

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Complement factor I deficiency MIM#610984

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Complement factor I deficiency, MIM#610984
OMIM
217030
Clinvar variants
Variants in CFI
Penetrance
None
Publications
Panels with this gene

History Filter Activity

17 Jan 2025, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

17 Jan 2025, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: CFI were changed from Complement factor I deficiency, 610984 (3) to Complement factor I deficiency, MIM#610984

17 Jan 2025, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: CFI were set to

1 Jun 2022, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: CFI was added gene: CFI was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: CFI was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CFI were set to Complement factor I deficiency, 610984 (3)