Genomics England

mitochondrial trans-2-enoyl-CoA reductase

Panel	Mode of inheritance	Details
Filter panels5 panels
Green in Childhood onset dystonia or chorea or related movement disorder R-numbers: R57 Signed-off version 2.6	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities 617282
Green in Inborn errors of metabolism Component of the following Super Panels: - Hypotonic infant - Paediatric disorders - White matter disorders - childhood onset R-numbers: R98 Signed-off version 3.2	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: - White matter disorders - childhood onset Signed-off version 3.1	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 3.1	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 2.2	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities, 617282