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| Ataxia - adult onset v0.97 | EPM1 | Bryony Thompson Classified STR: EPM1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia - adult onset v0.97 | EPM1 | Bryony Thompson Str: epm1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia - adult onset v0.96 | EPM1 |
Bryony Thompson STR: EPM1 was added STR: EPM1 was added to Ataxia - adult onset. Sources: Literature STR tags were added to STR: EPM1. Mode of inheritance for STR: EPM1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for STR: EPM1 were set to 29325606; 20301321 Phenotypes for STR: EPM1 were set to Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg) MIM#254800 Review for STR: EPM1 was set to GREEN STR: EPM1 was marked as clinically relevant Added comment: NM_000100.4:c.-179CCCCGCCCCGCG[X] Loss of function, other disease-associated variants can cause loss of function too. Ataxia age of onset usually occurs a couple of years after PME. Normal: 2-3 dodecamer repeats Uncertain significance: 12-17 dodecamer repeats (unstable, but not clinically characterized) Pathogenic (full penetrance): ≥30 dodecamer repeats Sources: Literature |
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