| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Ataxia v2.209 | RNASEH1 | Bryony Thompson Marked gene: RNASEH1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia v2.209 | RNASEH1 | Bryony Thompson Gene: rnaseh1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia v2.209 | RNASEH1 | Bryony Thompson Classified gene: RNASEH1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia v2.209 | RNASEH1 | Bryony Thompson Gene: rnaseh1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia v2.208 | RNASEH1 |
Bryony Thompson gene: RNASEH1 was added gene: RNASEH1 was added to Ataxia. Sources: Literature Mode of inheritance for gene: RNASEH1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RNASEH1 were set to 35711919; 28508084; 26094573 Phenotypes for gene: RNASEH1 were set to adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy, MONDO:0018002 Review for gene: RNASEH1 was set to GREEN Added comment: Biallelic RNASEH1 loss‑of‑function variants can cause a recurrent triad of PEO, muscle weakness and cerebellar ataxia, with ataxia present in over half of cases. Sources: Literature |
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