Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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Auditory Neuropathy v0.19 | TIMM8A | Bryony Thompson Marked gene: TIMM8A as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Auditory Neuropathy v0.19 | TIMM8A | Bryony Thompson Gene: timm8a has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Auditory Neuropathy v0.19 | TIMM8A | Bryony Thompson Classified gene: TIMM8A as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Auditory Neuropathy v0.19 | TIMM8A | Bryony Thompson Gene: timm8a has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Auditory Neuropathy v0.18 | TIMM8A | Bryony Thompson reviewed gene: TIMM8A: Rating: GREEN; Mode of pathogenicity: None; Publications: 31446702, 30634948, 17471106; Phenotypes: Mohr-Tranebjaerg syndrome, MIM# 304700, Syndromic auditory neuropathy spectrum disorder; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Auditory Neuropathy v0.0 | TIMM8A |
Bryony Thompson gene: TIMM8A was added gene: TIMM8A was added to Auditory Neuropathy. Sources: Literature Mode of inheritance for gene: TIMM8A was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: TIMM8A were set to 21176974 Phenotypes for gene: TIMM8A were set to Mohr-Tranebjaerg syndrome, MIM# 304700; Syndromic auditory neuropathy spectrum disorder |