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  2. Newborns additional phenotypes panel 1
  3. CFI
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Newborns additional phenotypes panel 1

Gene: CFI

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

1 review

Mafalda Gomes (Genomics England Curator)

The mechanism of pathogenicity is loss-of-function (LOF).
Created: 1 Jun 2023, 2:40 p.m. | Last Modified: 1 Jun 2023, 2:40 p.m.
Panel Version: 0.29
Created: 1 Jun 2023, 2:40 p.m.
Last Modified: 1 Jun 2023, 2:40 p.m.
Panel version: 0.29

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
Phenotypes
  • Hemolytic uremic syndrome, atypical, susceptibility to, 3
OMIM
217030
Clinvar variants
Variants in CFI
Penetrance
None
Panels with this gene

History Filter Activity

14 Sep 2023, Gel status: 2

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes Hemolytic uremic syndrome, atypical, susceptibility to, 3 for gene: CFI

5 Jul 2023, Gel status: 2

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Amber was added to CFI. Added phenotypes Hemolytic uremic syndrome, atypical, susceptibility to, 3 for gene: CFI Rating Changed from Red List (low evidence) to Amber List (moderate evidence)

31 May 2023, Gel status: 1

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Phenotypes for gene: CFI were changed from Susceptibility to atypical hemolytic uremic syndrome- 3; Hemolytic uremic syndrome, atypical, susceptibility to, 3 to Hemolytic uremic syndrome, atypical, susceptibility to, 3

31 May 2023, Gel status: 1

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Red was added to CFI. Added phenotypes Hemolytic uremic syndrome, atypical, susceptibility to, 3 for gene: CFI Rating Changed from No List (delete) to Red List (low evidence)

5 May 2023, Gel status: 0

Added New Source, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Removed was added to CFI. Rating Changed from Red List (low evidence) to No List (delete)

9 Mar 2023, Gel status: 1

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

Mafalda Gomes (Genomics England Curator)

gene: CFI was added gene: CFI was added to Newborns additional phenotypes panel. Sources: Expert Review Red Mode of inheritance for gene: CFI was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: CFI were set to Susceptibility to atypical hemolytic uremic syndrome- 3