Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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Mitochondrial disease v0.232 | SLC25A21 | Bryony Thompson Marked gene: SLC25A21 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mitochondrial disease v0.232 | SLC25A21 | Bryony Thompson Gene: slc25a21 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mitochondrial disease v0.232 | SLC25A21 | Bryony Thompson Classified gene: SLC25A21 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mitochondrial disease v0.232 | SLC25A21 | Bryony Thompson Gene: slc25a21 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mitochondrial disease v0.231 | SLC25A21 |
Bryony Thompson gene: SLC25A21 was added gene: SLC25A21 was added to Mitochondrial disease. 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 |