Activity
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8 actions
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| Congenital nystagmus v0.39 | GNB3 | Zornitza Stark Marked gene: GNB3 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital nystagmus v0.39 | GNB3 | Zornitza Stark Gene: gnb3 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital nystagmus v0.39 | GNB3 | Zornitza Stark Publications for gene: GNB3 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital nystagmus v0.38 | GNB3 | Zornitza Stark Classified gene: GNB3 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital nystagmus v0.38 | GNB3 | Zornitza Stark Gene: gnb3 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital nystagmus v0.37 | GNB3 | Zornitza Stark edited their review of gene: GNB3: Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital nystagmus v0.37 | GNB3 |
Zornitza Stark changed review comment from: Two families reported. One of the families is unusual in that individuals in one generation were compound hets, whereas individuals in another generation/branch of the family were homozygous for one of the variants. Chicken model supports gene-disease association.; to: Two families reported. One of the families is unusual in that individuals in one generation were compound hets, whereas individuals in another generation/branch of the family were homozygous for one of the variants. Chicken model supports gene-disease association. However, patients present with childhood-onset night blindness and middle age-onset photophobia, but have near-normal vision and do not exhibit nystagmus or high myopia. |
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| Congenital nystagmus v0.4 | GNB3 |
Zornitza Stark gene: GNB3 was added gene: GNB3 was added to Congenital nystagmus. Sources: Expert Review Green,Royal Melbourne Hospital Mode of inheritance for gene: GNB3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: GNB3 were set to Night blindness, congenital stationary, type 1H, MIM# 617024 |
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