| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Genetic Epilepsy v1.136 | CSTB_EPM1_CCCCGCCCCGCG | Bryony Thompson Marked STR: CSTB_EPM1_CCCCGCCCCGCG as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v1.136 | CSTB_EPM1_CCCCGCCCCGCG | Bryony Thompson Str: cstb_epm1_ccccgccccgcg has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v1.136 | CSTB_EPM1_CCCCGCCCCGCG | Bryony Thompson Classified STR: CSTB_EPM1_CCCCGCCCCGCG as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v1.136 | CSTB_EPM1_CCCCGCCCCGCG | Bryony Thompson Str: cstb_epm1_ccccgccccgcg has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v1.135 | CSTB_EPM1_CCCCGCCCCGCG |
Bryony Thompson STR: CSTB_EPM1_CCCCGCCCCGCG was added STR: CSTB_EPM1_CCCCGCCCCGCG was added to Genetic Epilepsy. Sources: Expert list Mode of inheritance for STR: CSTB_EPM1_CCCCGCCCCGCG was set to BIALLELIC, autosomal or pseudoautosomal Publications for STR: CSTB_EPM1_CCCCGCCCCGCG were set to 29325606; 20301321; 9126745 Phenotypes for STR: CSTB_EPM1_CCCCGCCCCGCG were set to Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg) MIM#254800 Review for STR: CSTB_EPM1_CCCCGCCCCGCG was set to GREEN STR: CSTB_EPM1_CCCCGCCCCGCG was marked as clinically relevant STR: CSTB_EPM1_CCCCGCCCCGCG was marked as current diagnostic 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: Expert list |
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