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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)
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