Activity
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10 actions
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| Retinal disorders v8.17 | CFI | Achchuthan Shanmugasundram Classified gene: CFI as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v8.17 | CFI | Achchuthan Shanmugasundram Gene: cfi has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v8.16 | CFI | Achchuthan Shanmugasundram Publications for gene: CFI were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v8.15 | CFI | Achchuthan Shanmugasundram 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 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v8.14 | CFI | Ida Ertmanska commented on gene: CFI: 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. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v8.14 | CFI |
Ida Ertmanska changed review comment from: 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).; to: 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). |
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| Retinal disorders v8.14 | CFI | Ida Ertmanska reviewed gene: CFI: Rating: RED; Mode of pathogenicity: None; Publications: 25986072; Phenotypes: Macular degeneration, age related, 13, susceptibility to, OMIM:615439, retinal disorder, MONDO:0005283; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v8.14 | CFI | Ida Ertmanska Deleted their review | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v8.14 | CFI | Ida Ertmanska reviewed gene: CFI: Rating: RED; Mode of pathogenicity: None; Publications: 25986072; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v8.4 | CFI |
Siying Lin 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 Added comment: 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: Literature |
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