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| Retinal disorders v9.14 | FBN2 | Ida Ertmanska commented on gene: FBN2: Comment on list classification: As there is only 1 pedigree reported in literature where a het FBN2 variant segregated with macular degeneration, this gene can only be rated Red on Retinal disorders. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v9.14 | FBN2 |
Ida Ertmanska changed review comment from: PMID: 24899048 Ratnapriya et al., 2014 Summary copied from OMIM: "Reported a family in which a father and 4 sons had early-onset macular dystrophy. Clinical features varied among the 5 affected individuals. The father was diagnosed with macular degeneration at 69 years of age, and examination at age 75 showed large areas of pigment epithelial atrophy in the macula of both eyes. The eldest son reported a history of distorted vision in his left eye from the age of 46 years; examination at age 52 confirmed pigmentary changes of the left macula. Another son had a history of choroidal neovascularization in the right eye at age 35. Two more sons exhibited clinical findings consistent with atrophic macular disease in their forties. There was no history of skeletal, joint, or muscle abnormalities in these patients." A heterozygous FBN2 c.3430G>A, p.Glu1144Lys variant was posed to be causal. MAF in gnomAD v4 = 0.0001761. Conflicting in ClinVar (VUS/B). Sources: Literature; to: PMID: 24899048 Ratnapriya et al., 2014 Summary copied from OMIM: "Reported a family in which a father and 4 sons had early-onset macular dystrophy. Clinical features varied among the 5 affected individuals. The father was diagnosed with macular degeneration at 69 years of age, and examination at age 75 showed large areas of pigment epithelial atrophy in the macula of both eyes. The eldest son reported a history of distorted vision in his left eye from the age of 46 years; examination at age 52 confirmed pigmentary changes of the left macula. Another son had a history of choroidal neovascularization in the right eye at age 35. Two more sons exhibited clinical findings consistent with atrophic macular disease in their forties. There was no history of skeletal, joint, or muscle abnormalities in these patients." A heterozygous FBN2 c.3430G>A, p.Glu1144Lys variant segregated with disease and was posed to be causal. MAF in gnomAD v4 = 0.0001761. Conflicting in ClinVar (VUS/B). Sources: Literature |
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| Retinal disorders v9.14 | FBN2 |
Ida Ertmanska gene: FBN2 was added gene: FBN2 was added to Retinal disorders. Sources: Literature Mode of inheritance for gene: FBN2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: FBN2 were set to 24899048 Phenotypes for gene: FBN2 were set to Macular degeneration, early-onset, OMIM:616118; macular degeneration, early-onset, MONDO:0014501 Review for gene: FBN2 was set to RED Added comment: PMID: 24899048 Ratnapriya et al., 2014 Summary copied from OMIM: "Reported a family in which a father and 4 sons had early-onset macular dystrophy. Clinical features varied among the 5 affected individuals. The father was diagnosed with macular degeneration at 69 years of age, and examination at age 75 showed large areas of pigment epithelial atrophy in the macula of both eyes. The eldest son reported a history of distorted vision in his left eye from the age of 46 years; examination at age 52 confirmed pigmentary changes of the left macula. Another son had a history of choroidal neovascularization in the right eye at age 35. Two more sons exhibited clinical findings consistent with atrophic macular disease in their forties. There was no history of skeletal, joint, or muscle abnormalities in these patients." A heterozygous FBN2 c.3430G>A, p.Glu1144Lys variant was posed to be causal. MAF in gnomAD v4 = 0.0001761. Conflicting in ClinVar (VUS/B). Sources: Literature |
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