| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Congenital Stationary Night Blindness v0.20 | RDH5 | Zornitza Stark Marked gene: RDH5 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital Stationary Night Blindness v0.20 | RDH5 | Zornitza Stark Gene: rdh5 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital Stationary Night Blindness v0.20 | RDH5 | Zornitza Stark Phenotypes for gene: RDH5 were changed from Achromatopsia, Cone, and Cone-rod Dystrophy; Fundus albipunctatus, 136880; Fundus albipunctatus; Congenital Stationary Night Blindness to Fundus albipunctatus (MIM#136880); Congenital Stationary Night Blindness | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital Stationary Night Blindness v0.19 | RDH5 | Zornitza Stark Publications for gene: RDH5 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital Stationary Night Blindness v0.18 | RDH5 | Zornitza Stark Mode of inheritance for gene: RDH5 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital Stationary Night Blindness v0.17 | RDH5 | Zornitza Stark reviewed gene: RDH5: Rating: GREEN; Mode of pathogenicity: None; Publications: 15790919, 14718298, 11812441, 10369264, 32232344; Phenotypes: Fundus albipunctatus (MIM#136880); Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital Stationary Night Blindness v0.9 | RDH5 | Zornitza Stark Mode of inheritance for gene: RDH5 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital Stationary Night Blindness v0.0 | RDH5 |
Bryony Thompson gene: RDH5 was added gene: RDH5 was added to Congenital Stationary Night Blindness_RMH. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: RDH5 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: RDH5 were set to Achromatopsia, Cone, and Cone-rod Dystrophy; Fundus albipunctatus, 136880; Fundus albipunctatus; Congenital Stationary Night Blindness |
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