| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Ataxia - paediatric v0.332 | CACNA2D2 | Ain Roesley Marked gene: CACNA2D2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia - paediatric v0.332 | CACNA2D2 | Ain Roesley Gene: cacna2d2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia - paediatric v0.332 | CACNA2D2 | Ain Roesley Classified gene: CACNA2D2 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia - paediatric v0.332 | CACNA2D2 | Ain Roesley Gene: cacna2d2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia - paediatric v0.331 | CACNA2D2 |
Ain Roesley gene: CACNA2D2 was added gene: CACNA2D2 was added to Ataxia - paediatric. Sources: Literature Mode of inheritance for gene: CACNA2D2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CACNA2D2 were set to 23339110; 24358150; 30410802; 29997391; 31402629 Phenotypes for gene: CACNA2D2 were set to Cerebellar atrophy with seizures and variable developmental delay MIM#618501 Review for gene: CACNA2D2 was set to GREEN gene: CACNA2D2 was marked as current diagnostic Added comment: 4 out of 6 families reported individuals <1 years old with ataxia Sources: Literature |
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