| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Dystonia - complex v0.217 | GAMT | Zornitza Stark Tag treatable tag was added to gene: GAMT. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dystonia - complex v0.206 | GAMT | Zornitza Stark Publications for gene: GAMT were set to 19027335 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dystonia - complex v0.205 | GAMT | Zornitza Stark Classified gene: GAMT as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dystonia - complex v0.205 | GAMT | Zornitza Stark Gene: gamt has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dystonia - complex v0.204 | GAMT | Zornitza Stark reviewed gene: GAMT: Rating: GREEN; Mode of pathogenicity: None; Publications: 19027335, 33996490, 12557293, 19288536, 16855203; Phenotypes: Cerebral creatine deficiency syndrome 2 MIM#612736; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dystonia - complex v0.102 | GAMT | Zornitza Stark Marked gene: GAMT as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dystonia - complex v0.102 | GAMT | Zornitza Stark Gene: gamt has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dystonia - complex v0.20 | GAMT |
Bryony Thompson gene: GAMT was added gene: GAMT was added to Dystonia - complex. Sources: Expert list Mode of inheritance for gene: GAMT was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GAMT were set to 19027335 Phenotypes for gene: GAMT were set to Cerebral creatine deficiency syndrome 2 MIM#612736 Review for gene: GAMT was set to RED Added comment: Dystonia is not a prominent feature of the condition. A single case has been reported with dystonia as part of the phenotype. Sources: Expert list |
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