MECR

mitochondrial trans-2-enoyl-CoA reductase
OMIM: 608205
PanelMode of inheritanceDetails
4 panels
R-numbers: R57
Signed-off version 1.137
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 2.3
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 2.4
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities 617282
R-numbers: R63
Signed-off version 1.17
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities, 617282