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Likely inborn error of metabolism - targeted testing not possible v1.76 | LYRM7 |
Sarah Leigh Source Expert Review Green was added to LYRM7. Mode of inheritance for gene LYRM7 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Isolated complex III deficiency; severe encephalopathy, lactic acidosis and profound, isolated cIII deficiency in skeletal muscle; leukoencephalopathy and complex III deficiency; 615838; Mitochondrial complex III deficiency, nuclear type 8 for gene: LYRM7 Publications for gene LYRM7 were changed from to 27564080; 24014394; 28694194; 27151179; 26912632 Rating Changed from Red List (low evidence) to Green List (high evidence) |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | LYRM7 |
Ellen McDonagh gene: LYRM7 was added gene: LYRM7 was added to Inborn errors of metabolism. Sources: Expert Review Red Mode of inheritance for gene: LYRM7 was set to Unknown Phenotypes for gene: LYRM7 were set to Isolated complex III deficiency |