Retinal disorders
Gene: CFIEnsemblGeneIds (GRCh38): ENSG00000205403
EnsemblGeneIds (GRCh37): ENSG00000205403
OMIM: 217030, Gene2Phenotype
CFI is in 7 panels
2 reviews
Ida Ertmanska (Genomics England Curator)
Comment on list classification: Macular degeneration was reported in two Tunisian patients, heterozygous for a CFI variant. The reported variant is also common in healthy Tunisian controls. Hence, the gene can only be rated as Red with the current evidence.Created: 29 Aug 2025, 8:54 a.m. | Last Modified: 29 Aug 2025, 8:54 a.m.
Panel Version: 8.14
PMID: 25986072 – Two families with carriers of CFI:c.1234G>A p.(Val412Met). 24yo heterozygous carrier Fam3-01 displayed early-onset drusen maculopathy. Individual Fam1-01, 68yo, had advanced age-related macular degeneration – time of onset unknown. 10/200 unrelated Tunisian Jewish controls were reported to carry for the variant (5% allele freq) - too high to cause the disorder. The variant is also present in gnomAD v4.1.0: highest allele freq = 0.0004954 (Middle Eastern population; no homozygotes).
OMIM reports a gene association with disease susceptibility (OMIM:615439 Macular degeneration, age related, 13, susceptibility to; accessed 20th Aug 2025).Created: 29 Aug 2025, 8:41 a.m. | Last Modified: 29 Aug 2025, 8:41 a.m.
Panel Version: 8.14
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Macular degeneration, age related, 13, susceptibility to, OMIM:615439; retinal disorder, MONDO:0005283
Publications
Siying Lin (Moorfields Eye Hospital)
A rare heterozygous variant in CFI was identified in two Tunisian families: one affected by early-onset drusen maculopathy and the other by “advanced AMD,” although the age of onset in the latter is unknown (PMID: 25986072). Functional studies provide evidence that rare, highly penetrant CFI variants contribute to the genetic burden of AMD (PMIDs: 25788521, 23685748), supporting a potential mechanistic link between these variants and dominantly inherited early-onset drusen maculopathy.
Sources: LiteratureCreated: 22 May 2025, 12:03 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Early Onset Drsen Maculopathy
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Red
- Phenotypes
-
- Macular degeneration, age related, 13, susceptibility to, OMIM:615439
- retinal disorder, MONDO:0005283
- OMIM
- 217030
- Clinvar variants
- Variants in CFI
- Penetrance
- unknown
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Achchuthan Shanmugasundram (Genomics England Curator)Gene: cfi has been classified as Red List (Low Evidence).
Set publications
Achchuthan Shanmugasundram (Genomics England Curator)Publications for gene: CFI were set to
Set Phenotypes
Achchuthan Shanmugasundram (Genomics England Curator)Phenotypes for gene: CFI were changed from Early Onset Drsen Maculopathy to Macular degeneration, age related, 13, susceptibility to, OMIM:615439; retinal disorder, MONDO:0005283
Created, Added New Source, Set mode of inheritance, Set Phenotypes, Set penetrance
Siying Lin (Moorfields Eye Hospital)gene: CFI was added gene: CFI was added to Retinal disorders. Sources: Literature Mode of inheritance for gene: CFI was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: CFI were set to Early Onset Drsen Maculopathy Penetrance for gene: CFI were set to unknown Review for gene: CFI was set to AMBER