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Inherited complement deficiency

Gene: CFI

Red List (low evidence)

CFI (complement factor I)
EnsemblGeneIds (GRCh38): ENSG00000205403
EnsemblGeneIds (GRCh37): ENSG00000205403
OMIM: 217030, Gene2Phenotype
CFI is in 8 panels

0 reviews

Details

Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Complement factor I deficiency, 610984
  • {Hemolytic uremic syndrome, atypical, susceptibility to, 3}, 612923
  • {Macular degeneration, age-related, 13, susceptibility to}, 615439
OMIM
217030
Clinvar variants
Variants in CFI
Penetrance
Complete
Panels with this gene

History Filter Activity

29 Oct 2015, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

CFI was created by ellenmcdonagh

29 Oct 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

CFI was added to Inherited complement deficiencypanel. Sources: Radboud University Medical Center, Nijmegen