| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Ataxia - paediatric v0.154 | SACS | Bryony Thompson Marked gene: SACS as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia - paediatric v0.154 | SACS | Bryony Thompson Gene: sacs has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia - paediatric v0.154 | SACS | Bryony Thompson Classified gene: SACS as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia - paediatric v0.154 | SACS | Bryony Thompson Gene: sacs has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia - paediatric v0.153 | SACS |
Bryony Thompson gene: SACS was added gene: SACS was added to Ataxia - paediatric. Sources: Expert list Mode of inheritance for gene: SACS was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SACS were set to Spastic ataxia, Charlevoix-Saguenay type MIM#270550 Review for gene: SACS was set to GREEN Added comment: Onset usually in infancy or early childhood. Sources: Expert list |
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| Ataxia - paediatric v0.0 | TUBB2A |
Bryony Thompson gene: TUBB2A was added gene: TUBB2A was added to Ataxia - paediatric_RMH. Sources: Royal Melbourne Hospital,Expert Review Amber Mode of inheritance for gene: TUBB2A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: TUBB2A were set to 29547997 Phenotypes for gene: TUBB2A were set to ?progressive spastic ataxia syndrome resembling sacsinopathy; Complex cortical dysplasia with other brain malformations 5, 615763 |
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