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| Likely inborn error of metabolism - targeted testing not possible v1.47 | LRPPRC |
Ivone Leong Source NHS GMS was added to LRPPRC. Source London North GLH was added to LRPPRC. |
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| Likely inborn error of metabolism - targeted testing not possible v0.4 | LRPPRC |
Ellen McDonagh Added phenotypes Leigh syndrome, French-Canadian type, 220111; Mitochondrial Diseases; Multiple respiratory chain complex deficiencies (disorders of protein synthesis); Isolated complex IV deficiency; Complex IV (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS assembly factors) for gene: LRPPRC Publications for gene LRPPRC were changed from to 27604308 |
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| Likely inborn error of metabolism - targeted testing not possible v0.4 | LRPPRC |
Ellen McDonagh gene: LRPPRC was added gene: LRPPRC was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: LRPPRC was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: LRPPRC were set to Leigh syndrome, French-Canadian type, 220111; Mitochondrial Diseases; Multiple respiratory chain complex deficiencies (disorders of protein synthesis); Isolated complex IV deficiency |
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