Genomics England

MECR

mitochondrial trans-2-enoyl-CoA reductase

Panel	Mode of inheritance	Details
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Green in Childhood onset dystonia, chorea or related movement disorder R-numbers: R57 Signed-off version 6.5	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities 617282
Green in DDG2P Component of the following Super Panels: - Paediatric disorders Signed-off version 5.48	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Childhood-Onset Dystonia and Optic Atrophy
Green in Likely inborn error of metabolism Component of the following Super Panels: - Childhood onset leukodystrophy - Hypotonic infant - Paediatric disorders - Unexplained death in infancy and sudden unexplained death in childhood R-numbers: R98 Signed-off version 7.13	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities 617282
Green in Mitochondrial disorders Component of the following Super Panels: - Childhood onset leukodystrophy Signed-off version 8.9	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities 617282
Green in Optic neuropathy R-numbers: R41 Signed-off version 4.40	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities, 617282
Green in Possible mitochondrial disorder - nuclear genes R-numbers: R63 Signed-off version 3.113	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities, 617282