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| Likely inborn error of metabolism - targeted testing not possible v1.47 | RARS2 |
Ivone Leong Source NHS GMS was added to RARS2. Source London North GLH was added to RARS2. |
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| Likely inborn error of metabolism - targeted testing not possible v0.4 | RARS2 |
Ellen McDonagh Added phenotypes Pontocerebellar hypoplasia, type 6, 611523; Multiple respiratory chain complex deficiencies (disorders of protein synthesis); Required for mitochondrial gene expression (Mitochondrial respiratory chain disorders (caused by nuclear variants only)) for gene: RARS2 Publications for gene RARS2 were changed from to 27604308 |
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| Likely inborn error of metabolism - targeted testing not possible v0.4 | RARS2 |
Ellen McDonagh gene: RARS2 was added gene: RARS2 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: RARS2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: RARS2 were set to Pontocerebellar hypoplasia, type 6, 611523; Multiple respiratory chain complex deficiencies (disorders of protein synthesis) |
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