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Likely inborn error of metabolism - targeted testing not possible v1.76 | MECR |
Sarah Leigh Source Expert Review Green was added to MECR. Mode of inheritance for gene MECR was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities 617282 for gene: MECR Publications for gene MECR were changed from to 27817865 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 | MECR |
Ellen McDonagh gene: MECR was added gene: MECR was added to Inborn errors of metabolism. Sources: Expert Review Red Mode of inheritance for gene: MECR was set to Unknown |