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| Likely inborn error of metabolism - targeted testing not possible v1.47 | MPV17 |
Ivone Leong Source NHS GMS was added to MPV17. Source London North GLH was added to MPV17. |
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| Likely inborn error of metabolism - targeted testing not possible v0.4 | MPV17 | Ellen McDonagh Added phenotypes Mitochondrial DNA Depletion Syndrome; Disorders of mitochondrial DNA maintenance and integrity; Mitochondrial DNA depletion syndrome 6 (hepatocerebral type), 256810 -3 for gene: MPV17 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism - targeted testing not possible v0.4 | MPV17 |
Ellen McDonagh gene: MPV17 was added gene: MPV17 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: MPV17 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MPV17 were set to 27604308 Phenotypes for gene: MPV17 were set to Mitochondrial DNA Depletion Syndrome; Disorders of mitochondrial DNA maintenance and integrity; Required for mtDNA maintenance (Mitochondrial respiratory chain disorders (caused by nuclear variants only)); Mitochondrial DNA depletion syndrome 6 (hepatocerebral type), 256810 -3 |
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