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| Congenital nystagmus v0.125 | PDE6H | Zornitza Stark Marked gene: PDE6H as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital nystagmus v0.125 | PDE6H | Zornitza Stark Gene: pde6h has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital nystagmus v0.125 | PDE6H | Zornitza Stark changed review comment from: Variants in this gene cause a spectrum of disorders along the retinal cone dystrophy/achromatopsia spectrum. Two families reported only with achromatopsia and bi-allelic variants.; to: Variants in this gene cause a spectrum of disorders along the retinal cone dystrophy/achromatopsia spectrum. Two families reported only with achromatopsia and bi-allelic variants. Nystagmus is a feature of achromatopsia. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital nystagmus v0.4 | PDE6H |
Zornitza Stark gene: PDE6H was added gene: PDE6H was added to Congenital nystagmus. Sources: Expert Review Green,Expert list Mode of inheritance for gene: PDE6H was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PDE6H were set to 22901948 Phenotypes for gene: PDE6H were set to Achromatopsia 6 MIM#610024 |
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