| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Auditory Neuropathy v0.12 | SLC52A3 | Bryony Thompson Marked gene: SLC52A3 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Auditory Neuropathy v0.12 | SLC52A3 | Bryony Thompson Gene: slc52a3 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Auditory Neuropathy v0.12 | SLC52A3 | Bryony Thompson Classified gene: SLC52A3 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Auditory Neuropathy v0.12 | SLC52A3 | Bryony Thompson Gene: slc52a3 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Auditory Neuropathy v0.11 | SLC52A3 |
Bryony Thompson gene: SLC52A3 was added gene: SLC52A3 was added to Auditory Neuropathy. Sources: Literature Mode of inheritance for gene: SLC52A3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC52A3 were set to 32128519; 20206331; 20920669; 29961494 Phenotypes for gene: SLC52A3 were set to Brown-Vialetto-Van Laere syndrome 1 MIM#211530; Syndromic auditory neuropathy spectrum disorder Review for gene: SLC52A3 was set to GREEN Added comment: Hearing loss is a prominent feature of the condition, and has been confirmed to be due to auditory neuropathy spectrum disorder in at least 4 cases. Sources: Literature |
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