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| Cataract v0.357 | AKR1E2 | Zornitza Stark Phenotypes for gene: AKR1E2 were changed from congenital cararact to Cataract, MONDO:0005129, AKR1E2-related | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cataract v0.356 | AKR1E2 | Zornitza Stark reviewed gene: AKR1E2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Cataract, MONDO:0005129, AKR1E2-related; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cataract v0.167 | AKR1E2 | Seb Lunke Marked gene: AKR1E2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cataract v0.167 | AKR1E2 | Seb Lunke Gene: akr1e2 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cataract v0.167 | AKR1E2 |
Seb Lunke gene: AKR1E2 was added gene: AKR1E2 was added to Cataract. Sources: Literature Mode of inheritance for gene: AKR1E2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: AKR1E2 were set to 26622071; 26622071 Phenotypes for gene: AKR1E2 were set to congenital cararact Review for gene: AKR1E2 was set to RED Added comment: Same family with homozygous canonical splice variants and 3 cases of congenital cataract described in 2012 (original) and 2015 (review). No other descriptions since. Sources: Literature |
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