Activity
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| Isovaleric acidaemia - Diagnostic v0.4 | IVD | Achchuthan Shanmugasundram reviewed gene: IVD: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Isovaleric acidaemia - Diagnostic v0.3 | IVD |
Achchuthan Shanmugasundram Source Expert Review Green was added to IVD. Rating Changed from Red List (low evidence) to Green List (high evidence) |
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| Isovaleric acidaemia - Diagnostic v0.1 | IVD |
Achchuthan Shanmugasundram gene: IVD was added gene: IVD was added to Isovaleric acidaemia. Sources: NHS GMS Mode of inheritance for gene: IVD was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: IVD were set to Isovaleric acidemia, OMIM:243500 |
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