| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Dystonia - isolated/combined v0.35 | ECHS1 | Zornitza Stark Marked gene: ECHS1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dystonia - isolated/combined v0.35 | ECHS1 | Zornitza Stark Gene: echs1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dystonia - isolated/combined v0.35 | ECHS1 | Zornitza Stark Phenotypes for gene: ECHS1 were changed from Mitochondrial short-chain enoyl-coa hydratase 1 deficiency to Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency 616277; Dystonia | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dystonia - isolated/combined v0.34 | ECHS1 | Zornitza Stark Publications for gene: ECHS1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dystonia - isolated/combined v0.33 | ECHS1 | Zornitza Stark reviewed gene: ECHS1: Rating: GREEN; Mode of pathogenicity: None; Publications: 32858208; Phenotypes: Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency 616277, Dystonia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dystonia - isolated/combined v0.0 | ECHS1 |
Bryony Thompson gene: ECHS1 was added gene: ECHS1 was added to Dystonia - isolated/combined_RMH. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: ECHS1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ECHS1 were set to Mitochondrial short-chain enoyl-coa hydratase 1 deficiency |
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