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| Ataxia - paediatric v1.48 | ATXN2_SCA2_CAG | Bryony Thompson Marked STR: ATXN2_SCA2_CAG as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia - paediatric v1.48 | ATXN2_SCA2_CAG | Bryony Thompson Str: atxn2_sca2_cag has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia - paediatric v1.48 | ATXN2_SCA2_CAG | Bryony Thompson Classified STR: ATXN2_SCA2_CAG as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia - paediatric v1.48 | ATXN2_SCA2_CAG | Bryony Thompson Str: atxn2_sca2_cag has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia - paediatric v1.47 | ATXN2_SCA2_CAG |
Bryony Thompson STR: ATXN2_SCA2_CAG was added STR: ATXN2_SCA2_CAG was added to Ataxia - paediatric. Sources: Literature Mode of inheritance for STR: ATXN2_SCA2_CAG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for STR: ATXN2_SCA2_CAG were set to 40741828 Phenotypes for STR: ATXN2_SCA2_CAG were set to Spinocerebellar ataxia type 2 MONDO:0008458 Review for STR: ATXN2_SCA2_CAG was set to GREEN STR: ATXN2_SCA2_CAG was marked as clinically relevant STR: ATXN2_SCA2_CAG was marked as current diagnostic Added comment: Cohort of paediatric-onset SCA2 cases. The infantile onset group (n=9) had expansions ≥88 repeats, and the juvenile onset group (n=13) had expansions ≥43 repeats. Paediatric SCA2 phenotype includes developmental delay and seizures (infantile-onset) and cerebellar degeneration similar to adults in the juvenile group. Sources: Literature |
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