MECR

mitochondrial trans-2-enoyl-CoA reductase
OMIM: 608205
PanelMode of inheritanceDetails
5 panels
R-numbers: R57
Signed-off version 2.6
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities 617282
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
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
R-numbers: R41
Signed-off version 3.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities, 617282
R-numbers: R63
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities, 617282