| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Achromatopsia v0.2 | ATF6 | Bryony Thompson Marked gene: ATF6 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Achromatopsia v0.2 | ATF6 | Bryony Thompson Gene: atf6 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Achromatopsia v0.2 | ATF6 | Bryony Thompson Classified gene: ATF6 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Achromatopsia v0.2 | ATF6 | Bryony Thompson Gene: atf6 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Achromatopsia v0.1 | ATF6 |
Bryony Thompson gene: ATF6 was added gene: ATF6 was added to Achromatopsia. Sources: Expert list Mode of inheritance for gene: ATF6 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ATF6 were set to 26063662; 26029869 Phenotypes for gene: ATF6 were set to Achromatopsia 7 MIM#616517 Review for gene: ATF6 was set to GREEN Added comment: At least 11 families reported with the biallelic variants and a null mouse model with retinal degeneration. Sources: Expert list |
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