| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Ataxia v2.79 | KARS1 | Bryony Thompson Marked gene: KARS1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia v2.79 | KARS1 | Bryony Thompson Gene: kars1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia v2.79 | KARS1 | Bryony Thompson Classified gene: KARS1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia v2.79 | KARS1 | Bryony Thompson Gene: kars1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia v2.78 | KARS1 |
Bryony Thompson gene: KARS1 was added gene: KARS1 was added to Ataxia. Sources: Literature Mode of inheritance for gene: KARS1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: KARS1 were set to 34172899; 31192300; 31192300 Phenotypes for gene: KARS1 were set to leukoencephalopathy, progressive, infantile-onset, with or without deafness, MONDO:0030893 Review for gene: KARS1 was set to GREEN Added comment: PMID 34172899 reports 22 individuals from 16 families and PMID 31192300 reports 5 individuals from 4 families with biallelic KARS1 loss-of-function variants causing early-onset leukoencephalopathy with cerebellar ataxia. Segregation is confirmed in multiple pedigrees, and functional studies—including zebrafish knockout rescue and aminoacyl‑tRNA synthetase activity assays—support a loss‑of‑function mechanism. In total 27 patients from 20 independent families with ataxia. Sources: Literature |
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