| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Ataxia v2.211 | SCARB2 | Bryony Thompson Marked gene: SCARB2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia v2.211 | SCARB2 | Bryony Thompson Gene: scarb2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia v2.211 | SCARB2 | Bryony Thompson Classified gene: SCARB2 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia v2.211 | SCARB2 | Bryony Thompson Gene: scarb2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia v2.210 | SCARB2 |
Bryony Thompson gene: SCARB2 was added gene: SCARB2 was added to Ataxia. Sources: Literature Mode of inheritance for gene: SCARB2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SCARB2 were set to 35346091; 33772352; 33343627; 29941711; 29605618 Phenotypes for gene: SCARB2 were set to action myoclonus-renal failure syndrome, MONDO:0009699 Review for gene: SCARB2 was set to GREEN Added comment: Biallelic loss-of-function SCARB2 variants mainly present with progressive myoclonus epilepsy, action myoclonus, cerebellar ataxia, dysarthria and variable renal dysfunction. Core features include action myoclonus, ataxia and dysarthria; renal involvement is observed in some families. Sources: Literature |
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