| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Ataxia v2.227 | TOMM70 | Bryony Thompson Marked gene: TOMM70 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia v2.227 | TOMM70 | Bryony Thompson Gene: tomm70 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia v2.227 | TOMM70 | Bryony Thompson Classified gene: TOMM70 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia v2.227 | TOMM70 | Bryony Thompson Gene: tomm70 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia v2.226 | TOMM70 |
Bryony Thompson gene: TOMM70 was added gene: TOMM70 was added to Ataxia. Sources: Literature Mode of inheritance for gene: TOMM70 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: TOMM70 were set to 32356556 Phenotypes for gene: TOMM70 were set to leukodystrophy, MONDO:0019046 Review for gene: TOMM70 was set to AMBER Added comment: PMID 32356556 reports 2 individuals from 2 families with heterozygous de novo loss-of-function missense variants (p.Thr607Ile and p.Ile554Phe) presenting with developmental ataxia, hypotonia, hyperreflexia and white‑matter abnormalities. Drosophila rescue assays show that wild‑type TOMM70 rescues Tom70 null lethality whereas the patient alleles do not, demonstrating loss‑of‑function. Sources: Literature |
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