Activity
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6 actions
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| Structural eye disease v1.12 | FOXC1 | Eleanor Williams Publications for gene: FOXC1 were set to 12036988; 17210863; 9620769; 10713890; 11007653; 12614756 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v1.11 | FOXC1 | Eleanor Williams reviewed gene: FOXC1: Rating: ; Mode of pathogenicity: None; Publications: 32720677; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.76 | FOXC1 | Nicola Ragge reviewed gene: FOXC1: Rating: GREEN; Mode of pathogenicity: Other - please provide details in the comments; Publications: 9620769, 10713890, 12036988, 17210863, 12614756, 11007653; Phenotypes: Anterior segment dysgenesis 3, multiple subtypes 601631, Axenfeld-Rieger syndrome, type 3 602482; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.38 | FOXC1 | Ivone Leong reviewed gene: FOXC1: Rating: GREEN; Mode of pathogenicity: Other - please provide details in the comments; Publications: 9620769, 10713890, 12036988, 17210863, 12614756, 11007653; Phenotypes: Anterior segment dysgenesis 3, multiple subtypes 601631, Axenfeld-Rieger syndrome, type 3 602482; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.15 | FOXC1 |
Ivone Leong Source NHS GMS was added to FOXC1. Mode of pathogenicity for gene FOXC1 was changed from to Other - please provide details in the comments Added phenotypes Axenfeld-Rieger syndrome, type 3 602482; Anterior segment dysgenesis 3, multiple subtypes 601631 for gene: FOXC1 Publications for gene FOXC1 were changed from 9620769; 10713890; 12036988; 17210863; 12614756; 11007653 to 12036988; 17210863; 9620769; 10713890; 11007653; 12614756 |
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| Structural eye disease v0.2 | FOXC1 |
Ellen McDonagh gene: FOXC1 was added gene: FOXC1 was added to Structural eye disease. Sources: Expert Review Green Mode of inheritance for gene: FOXC1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: FOXC1 were set to 9620769; 10713890; 12036988; 17210863; 12614756; 11007653 Phenotypes for gene: FOXC1 were set to Anterior segment dysgenesis 3, multiple subtypes 601631; Axenfeld-Rieger syndrome, type 3 602482 |
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