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| Macular Dystrophy/Stargardt Disease v0.16 | RS1 | Zornitza Stark Marked gene: RS1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Macular Dystrophy/Stargardt Disease v0.16 | RS1 | Zornitza Stark Gene: rs1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Macular Dystrophy/Stargardt Disease v0.16 | RS1 | Zornitza Stark Phenotypes for gene: RS1 were changed from Developmental macular and foveal dystrophy (males with foveal schisis) to Retinoschisis, MIM#312700; Developmental macular and foveal dystrophy (males with foveal schisis) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Macular Dystrophy/Stargardt Disease v0.15 | RS1 | Zornitza Stark Publications for gene: RS1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Macular Dystrophy/Stargardt Disease v0.14 | RS1 | Zornitza Stark Mode of inheritance for gene: RS1 was changed from X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) to X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Macular Dystrophy/Stargardt Disease v0.13 | RS1 | Zornitza Stark reviewed gene: RS1: Rating: GREEN; Mode of pathogenicity: None; Publications: 15932525, 23453514, 23847049; Phenotypes: Retinoschisis, MIM#312700; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Macular Dystrophy/Stargardt Disease v0.0 | RS1 |
Bryony Thompson gene: RS1 was added gene: RS1 was added to Macular Dystrophy/Stargardt Disease_RMH. Sources: Expert Review Green,Royal Melbourne Hospital Mode of inheritance for gene: RS1 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Phenotypes for gene: RS1 were set to Developmental macular and foveal dystrophy (males with foveal schisis) |
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