| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Auditory Neuropathy v0.18 | SPTBN4 | Bryony Thompson Marked gene: SPTBN4 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Auditory Neuropathy v0.18 | SPTBN4 | Bryony Thompson Gene: sptbn4 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Auditory Neuropathy v0.18 | SPTBN4 | Bryony Thompson Classified gene: SPTBN4 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Auditory Neuropathy v0.18 | SPTBN4 | Bryony Thompson Gene: sptbn4 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Auditory Neuropathy v0.17 | SPTBN4 | Bryony Thompson reviewed gene: SPTBN4: Rating: GREEN; Mode of pathogenicity: None; Publications: 32672909, 29861105; Phenotypes: Neurodevelopmental disorder with hypotonia, neuropathy, and deafness, MIM# 617519, Syndromic auditory neuropathy spectrum disorder; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Auditory Neuropathy v0.5 | SPTBN4 |
Bryony Thompson gene: SPTBN4 was added gene: SPTBN4 was added to Auditory Neuropathy. Sources: Expert list Mode of inheritance for gene: SPTBN4 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SPTBN4 were set to Neurodevelopmental disorder with hypotonia, neuropathy, and deafness, MIM# 617519; Syndromic auditory neuropathy spectrum disorder |
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