| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Ataxia v2.205 | STXBP1 | Bryony Thompson Marked gene: STXBP1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia v2.205 | STXBP1 | Bryony Thompson Gene: stxbp1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia v2.205 | STXBP1 | Bryony Thompson Classified gene: STXBP1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia v2.205 | STXBP1 | Bryony Thompson Gene: stxbp1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia v2.204 | STXBP1 |
Bryony Thompson gene: STXBP1 was added gene: STXBP1 was added to Ataxia. Sources: Literature Mode of inheritance for gene: STXBP1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: STXBP1 were set to 32105008; 29997391; 27069701; 26514728 Phenotypes for gene: STXBP1 were set to Neurodevelopmental disorder, MONDO:0700092; developmental and epileptic encephalopathy, 4, MONDO:0012812 Review for gene: STXBP1 was set to GREEN Added comment: STXBP1 variants are associated with both isolated congenital nonprogressive cerebellar ataxia and a broader developmental and epileptic encephalopathy that can include ataxia. Sources: Literature |
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