Genomics England

MECR

mitochondrial trans-2-enoyl-CoA reductase

Panel	Mode of inheritance	Details
Filter panels6 panels
Green in DDG2P Component of the following Super Panels: - Paediatric disorders Signed-off version 8.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Childhood-Onset Dystonia and Optic Atrophy
Green in Dystonia, chorea or related movement disorder, childhood onset R-numbers: R57 Signed-off version 8.13	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities 617282
Green in Likely inborn error of metabolism Component of the following Super Panels: - Hypotonic infant - Leukodystrophy, childhood onset - Paediatric disorders - Unexplained death in infancy and sudden unexplained death in childhood R-numbers: R98 Signed-off version 9.29	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: - Leukodystrophy, childhood onset Signed-off version 10.18	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 6.46	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 5.17	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities, 617282