Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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Hyperammonaemia v0.6 | IVD | Zornitza Stark Tag treatable tag was added to gene: IVD. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hyperammonaemia v0.4 | IVD | Zornitza Stark Marked gene: IVD as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hyperammonaemia v0.4 | IVD | Zornitza Stark Gene: ivd has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hyperammonaemia v0.4 | IVD | Zornitza Stark Phenotypes for gene: IVD were changed from Isovaleric acidemia 243500 to Isovaleric acidaemia, MIM# 243500 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hyperammonaemia v0.3 | IVD | Zornitza Stark Publications for gene: IVD were set to 23063737; 26018748; 24019846; 23587913 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hyperammonaemia v0.2 | IVD | Zornitza Stark reviewed gene: IVD: Rating: GREEN; Mode of pathogenicity: None; Publications: 15486829; Phenotypes: Isovaleric acidaemia, MIM# 243500; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hyperammonaemia v0.0 | IVD |
Zornitza Stark gene: IVD was added gene: IVD was added to Hyperammonaemia. Sources: Genomics England PanelApp,Expert Review Green Mode of inheritance for gene: IVD was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: IVD were set to 23063737; 26018748; 24019846; 23587913 Phenotypes for gene: IVD were set to Isovaleric acidemia 243500 |