| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Dystonia - complex v0.240 | GABRB2 | Bryony Thompson Marked gene: GABRB2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dystonia - complex v0.240 | GABRB2 | Bryony Thompson Gene: gabrb2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dystonia - complex v0.240 | GABRB2 | Bryony Thompson Classified gene: GABRB2 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dystonia - complex v0.240 | GABRB2 | Bryony Thompson Gene: gabrb2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dystonia - complex v0.239 | GABRB2 |
Bryony Thompson gene: GABRB2 was added gene: GABRB2 was added to Dystonia - complex. Sources: Literature Mode of inheritance for gene: GABRB2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: GABRB2 were set to 38996765 Phenotypes for gene: GABRB2 were set to epileptic encephalopathy, infantile or early childhood, 2 MONDO:0020631 Mode of pathogenicity for gene: GABRB2 was set to Other Review for gene: GABRB2 was set to GREEN gene: GABRB2 was marked as current diagnostic Added comment: At least 7 cases reported with dystonia as a feature of phenotype associated with gain-of-function variants. Sources: Literature |
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