| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Ataxia v2.221 | TIMM8A | Bryony Thompson Marked gene: TIMM8A as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia v2.221 | TIMM8A | Bryony Thompson Gene: timm8a has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia v2.221 | TIMM8A | Bryony Thompson Classified gene: TIMM8A as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia v2.221 | TIMM8A | Bryony Thompson Gene: timm8a has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia v2.220 | TIMM8A |
Bryony Thompson gene: TIMM8A was added gene: TIMM8A was added to Ataxia. 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 37325222; 32820032; 30363500 Phenotypes for gene: TIMM8A were set to deafness dystonia syndrome, MONDO:0010578 Review for gene: TIMM8A was set to GREEN Added comment: PMID 30363500 reports 2 individuals from 1 family, PMID 32820032 reports 2 individuals from 1 family, and PMID 37325222 reports 4 individuals from 1 family, all with X‑linked loss‑of‑function TIMM8A variants causing deafness‑dystonia‑optic neuronopathy (DDON) characterised by childhood‑onset hearing loss, progressive ataxia/dystonia, optic neuropathy and cognitive decline. Sources: Literature |
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