| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Mitochondrial disease v0.228 | SLC39A8 | Bryony Thompson Classified gene: SLC39A8 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.228 | SLC39A8 | Bryony Thompson Added comment: Comment on list classification: There's currently one family with a Leigh-like mitochondrial phenotype and in vitro functional assay data. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.228 | SLC39A8 | Bryony Thompson Gene: slc39a8 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.227 | SLC39A8 | Zornitza Stark Marked gene: SLC39A8 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.227 | SLC39A8 | Zornitza Stark Gene: slc39a8 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.227 | SLC39A8 | Zornitza Stark Classified gene: SLC39A8 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.227 | SLC39A8 | Zornitza Stark Gene: slc39a8 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.226 | SLC39A8 |
Bryony Thompson gene: SLC39A8 was added gene: SLC39A8 was added to Mitochondrial disease. Sources: NHS GMS Mode of inheritance for gene: SLC39A8 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC39A8 were set to 29453449; 27995398 Phenotypes for gene: SLC39A8 were set to Congenital disorder of glycosylation, type IIn MIM#616721 Review for gene: SLC39A8 was set to AMBER Added comment: Functional analyses of loss of function variants that have been identified in 3 CDG type II-associated cases and a Leigh-like syndrome mitochondrial disorder case resulted in mitochondrial dysfunction and oxidative stress. Sources: NHS GMS |
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