| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Congenital nystagmus v0.130 | SAG | Zornitza Stark Marked gene: SAG as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital nystagmus v0.130 | SAG | Zornitza Stark Gene: sag has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital nystagmus v0.130 | SAG | Zornitza Stark Publications for gene: SAG were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital nystagmus v0.129 | SAG | Zornitza Stark Classified gene: SAG as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital nystagmus v0.129 | SAG | Zornitza Stark Gene: sag has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital nystagmus v0.128 | SAG | Zornitza Stark edited their review of gene: SAG: Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital nystagmus v0.128 | SAG |
Zornitza Stark changed review comment from: Oguchi disease is a rare autosomal recessive form of congenital stationary night blindness in which all other visual functions, including visual acuity, visual field, and color vision, are usually normal. A typical feature of the disease is a golden or gray-white discoloration of the fundus that disappears in the dark-adapted state and reappears shortly after the onset of light (Mizuo phenomenon, or Mizuo-Nakamura phenomenon). The course of dark adaptation of rod photoreceptors is extremely retarded, whereas that of cones appears to proceed normally. Well established gene-disease association, multiple families reported.; to: Oguchi disease is a rare autosomal recessive form of congenital stationary night blindness in which all other visual functions, including visual acuity, visual field, and color vision, are usually normal. A typical feature of the disease is a golden or gray-white discoloration of the fundus that disappears in the dark-adapted state and reappears shortly after the onset of light (Mizuo phenomenon, or Mizuo-Nakamura phenomenon). The course of dark adaptation of rod photoreceptors is extremely retarded, whereas that of cones appears to proceed normally. Well established gene-disease association, multiple families reported. Nystagmus is not a feature. |
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| Congenital nystagmus v0.128 | SACS | Zornitza Stark Phenotypes for gene: SACS were changed from Spastic ataxia, Charlevoix-Saguenay type 270550 AR to Spastic ataxia, Charlevoix-Saguenay type, MIM# 270550 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital nystagmus v0.127 | SACS | Zornitza Stark reviewed gene: SACS: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Spastic ataxia, Charlevoix-Saguenay type, MIM# 270550; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital nystagmus v0.4 | SAG |
Zornitza Stark gene: SAG was added gene: SAG was added to Congenital nystagmus. Sources: Expert Review Green,Royal Melbourne Hospital Mode of inheritance for gene: SAG was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SAG were set to Oguchi disease-1, MIM# 258100 |
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| Congenital nystagmus v0.4 | SACS | Zornitza Stark Added phenotypes Spastic ataxia, Charlevoix-Saguenay type 270550 AR for gene: SACS | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital nystagmus v0.0 | SACS |
Zornitza Stark gene: SACS was added gene: SACS was added to Albinism or congenital nystagmus. Sources: Expert Review Green,NHS Genomic Medicine Service,Genomics England PanelApp Mode of inheritance for gene: SACS was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SACS were set to Spastic ataxia, Charlevoix-Saguenay type 270550 AR |
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