| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Ataxia v2.217 | TBC1D24 | Bryony Thompson Marked gene: TBC1D24 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia v2.217 | TBC1D24 | Bryony Thompson Gene: tbc1d24 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia v2.217 | TBC1D24 | Bryony Thompson Classified gene: TBC1D24 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia v2.217 | TBC1D24 | Bryony Thompson Gene: tbc1d24 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia v2.216 | TBC1D24 |
Bryony Thompson gene: TBC1D24 was added gene: TBC1D24 was added to Ataxia. Sources: Literature Mode of inheritance for gene: TBC1D24 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TBC1D24 were set to 41215607; 31226716; 30108545; 28663785; 26207815 Phenotypes for gene: TBC1D24 were set to developmental and epileptic encephalopathy, 16, MONDO:0014133 Review for gene: TBC1D24 was set to GREEN Added comment: Ataxia is a core feature in up to 47 % of affected individuals with biallelic TBC1D24 variants. Sources: Literature |
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