| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Auditory Neuropathy v0.8 | GJB1 | Bryony Thompson Marked gene: GJB1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Auditory Neuropathy v0.8 | GJB1 | Bryony Thompson Gene: gjb1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Auditory Neuropathy v0.8 | GJB1 | Bryony Thompson Classified gene: GJB1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Auditory Neuropathy v0.8 | GJB1 | Bryony Thompson Gene: gjb1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Auditory Neuropathy v0.7 | GJB1 | Bryony Thompson reviewed gene: GJB1: Rating: GREEN; Mode of pathogenicity: None; Publications: 28448691, 20193560, 21282593, 10102421; Phenotypes: Charcot-Marie-Tooth neuropathy, X-linked dominant, 1, MIM#302800; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Auditory Neuropathy v0.0 | GJB1 |
Bryony Thompson gene: GJB1 was added gene: GJB1 was added to Auditory Neuropathy. Sources: Literature Mode of inheritance for gene: GJB1 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Publications for gene: GJB1 were set to 21176974 Phenotypes for gene: GJB1 were set to Charcot-Marie-Tooth neuropathy, X-linked dominant, 1 MIM#302800; Syndromic auditory neuropathy spectrum disorder |
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