Activity
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| Ataxia and cerebellar anomalies - narrow panel v0.5 | CACNA1G |
Ellen McDonagh Mode of pathogenicity for gene CACNA1G was changed from Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype -please provide details in the comments to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments Added phenotypes Spinocerebellar ataxia 42 616795 for gene: CACNA1G Publications for gene CACNA1G were changed from to 25558065; 29878067; 17397049; 28726809 |
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| Ataxia and cerebellar anomalies - narrow panel v0.5 | CACNA1G |
Ellen McDonagh gene: CACNA1G was added gene: CACNA1G was added to Ataxia and cerebellar anomalies - narrow panel. Sources: Expert Review Green Mode of inheritance for gene: CACNA1G was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Mode of pathogenicity for gene: CACNA1G was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype -please provide details in the comments |
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