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| Ataxia v1.137 | CACNA1A_SCA6_CAG | Bryony Thompson Marked STR: CACNA1A_SCA6_CAG as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia v1.137 | CACNA1A_SCA6_CAG | Bryony Thompson Str: cacna1a_sca6_cag has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia v1.137 | CACNA1A_SCA6_CAG | Bryony Thompson Classified STR: CACNA1A_SCA6_CAG as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia v1.137 | CACNA1A_SCA6_CAG | Bryony Thompson Str: cacna1a_sca6_cag has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia v1.136 | CACNA1A_SCA6_CAG |
Bryony Thompson STR: CACNA1A_SCA6_CAG was added STR: CACNA1A_SCA6_CAG was added to Ataxia. Sources: Expert List Mode of inheritance for STR: CACNA1A_SCA6_CAG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for STR: CACNA1A_SCA6_CAG were set to 20301319; 29325606 Phenotypes for STR: CACNA1A_SCA6_CAG were set to Spinocerebellar ataxia 6 MIM#183086; Episodic ataxia, type 2 MIM#108500 Review for STR: CACNA1A_SCA6_CAG was set to GREEN STR: CACNA1A_SCA6_CAG was marked as clinically relevant STR: CACNA1A_SCA6_CAG was marked as current diagnostic Added comment: NM_023035.2:c.6929_6931CAG[X] PolyQ expansion alters gene binding, impairs transcription factor function, and is toxic to cells expressing the α1ACT – effects consistent with a loss of function Normal: ≤18 repeats Questionable significance: 19 CAG repeats Full penetrance: ≥20 repeats Sources: Expert List |
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