| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Auditory Neuropathy v0.10 | SLC52A2 | Bryony Thompson Marked gene: SLC52A2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Auditory Neuropathy v0.10 | SLC52A2 | Bryony Thompson Gene: slc52a2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Auditory Neuropathy v0.10 | SLC52A2 | Bryony Thompson Classified gene: SLC52A2 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Auditory Neuropathy v0.10 | SLC52A2 | Bryony Thompson Gene: slc52a2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Auditory Neuropathy v0.9 | SLC52A2 | Bryony Thompson edited their review of gene: SLC52A2: Set current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Auditory Neuropathy v0.9 | SLC52A2 |
Bryony Thompson gene: SLC52A2 was added gene: SLC52A2 was added to Auditory Neuropathy. Sources: Expert list Mode of inheritance for gene: SLC52A2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC52A2 were set to 26918385; 26092362 Phenotypes for gene: SLC52A2 were set to Brown-Vialetto-Van Laere syndrome 2 MIM#614707; Syndromic auditory neuropathy spectrum disorder Review for gene: SLC52A2 was set to GREEN Added comment: Hearing loss is a prominent feature in this condition and is due to auditory neuropathy spectrum disorder. Sources: Expert list |
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