| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Mendeliome v0.1824 | SLC25A21 | Zornitza Stark Marked gene: SLC25A21 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.1824 | SLC25A21 | Zornitza Stark Gene: slc25a21 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.1824 | SLC25A21 | Zornitza Stark Classified gene: SLC25A21 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.1824 | SLC25A21 | Zornitza Stark Gene: slc25a21 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.1823 | SLC25A21 |
Zornitza Stark gene: SLC25A21 was added gene: SLC25A21 was added to Mendeliome. Sources: NHS GMS Mode of inheritance for gene: SLC25A21 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC25A21 were set to 29517768 Phenotypes for gene: SLC25A21 were set to Mitochondrial DNA depletion syndrome-18, MIM#618811 Review for gene: SLC25A21 was set to AMBER Added comment: One case with a homozygous variant and functional assays showing mitochondrial dysfunction. Sources: NHS GMS |
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