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| Mitochondrial disease v0.431 | PTCD1 | Zornitza Stark Marked gene: PTCD1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.431 | PTCD1 | Zornitza Stark Gene: ptcd1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.291 | PTCD1 |
Bryony Thompson changed review comment from: Single case reported with no functional characterisation. Biochemical analyses of heart tissue identified global COX defect. Sources: NHS GMS; to: Single case reported with no functional characterisation. Biochemical analyses of heart tissue identified global COX defect. No OMIM phenotype. Sources: NHS GMS |
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| Mitochondrial disease v0.291 | PTCD1 |
Bryony Thompson gene: PTCD1 was added gene: PTCD1 was added to Mitochondrial disease. Sources: NHS GMS Mode of inheritance for gene: PTCD1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PTCD1 were set to 25058219 Phenotypes for gene: PTCD1 were set to Cardiomyopathy Review for gene: PTCD1 was set to RED Added comment: Single case reported with no functional characterisation. Biochemical analyses of heart tissue identified global COX defect. Sources: NHS GMS |
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