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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