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Congenital nystagmus v0.23 | CNGA3 | Zornitza Stark Marked gene: CNGA3 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Congenital nystagmus v0.23 | CNGA3 | Zornitza Stark Gene: cnga3 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Congenital nystagmus v0.23 | CNGA3 | Zornitza Stark changed review comment from: Well established gene-disease association, over 100 families reported.; to: Well established gene-disease association, over 100 families reported. Characterized by photophobia, reduced visual acuity, nystagmus, and the complete inability to discriminate between colours. Electroretinographic recordings show that in achromatopsia the rod photoreceptor function is normal, whereas cone photoreceptor responses are absent. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Congenital nystagmus v0.4 | CNGA3 |
Zornitza Stark gene: CNGA3 was added gene: CNGA3 was added to Congenital nystagmus. Sources: Expert Review Green,Expert list Mode of inheritance for gene: CNGA3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CNGA3 were set to 9662398; 17265047; 11536077 Phenotypes for gene: CNGA3 were set to Achromatopsia 2 MIM#216900 |