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| Mitochondrial disease v0.434 | OXA1L | Zornitza Stark Marked gene: OXA1L as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.434 | OXA1L | Zornitza Stark Gene: oxa1l has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.298 | OXA1L | Bryony Thompson Classified gene: OXA1L as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.298 | OXA1L | Bryony Thompson Gene: oxa1l has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.297 | OXA1L |
Bryony Thompson changed review comment from: Single family reported with biochemical and molecular analyses of patient skeletal muscle and fibroblasts. In vitro functional assays in human cell lines and a Drosophila model. Loss of function affects oxidative phosphorylation complexes IV and V. Sources: NHS GMS; to: Single family reported with biochemical and molecular analyses of patient skeletal muscle and fibroblasts. In vitro functional assays in human cell lines, Drosophila model, and yeast-based assays. Loss of function affects oxidative phosphorylation complexes IV and V. Sources: NHS GMS |
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| Mitochondrial disease v0.297 | OXA1L | Bryony Thompson edited their review of gene: OXA1L: Changed publications: 30201738, 16435202 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.297 | OXA1L |
Bryony Thompson gene: OXA1L was added gene: OXA1L was added to Mitochondrial disease. Sources: NHS GMS Mode of inheritance for gene: OXA1L was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: OXA1L were set to 30201738 Phenotypes for gene: OXA1L were set to encephalopathy; hypotonia; developmental delay Review for gene: OXA1L was set to AMBER Added comment: Single family reported with biochemical and molecular analyses of patient skeletal muscle and fibroblasts. In vitro functional assays in human cell lines and a Drosophila model. Loss of function affects oxidative phosphorylation complexes IV and V. Sources: NHS GMS |
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