MT-CO1

mitochondrially encoded cytochrome c oxidase I
OMIM: 516030
PanelMode of inheritanceDetails
2 panels
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R98
Signed-off version 2.3
MITOCHONDRIAL
Phenotypes
CYTOCHROME c OXIDASE I DEFICIENCY, SIDEROBLASTIC ANEMIA, ACQUIRED IDIOPATHIC, LEBER OPTIC ATROPHY, MYOGLOBINURIA, RECURRENT, CYTOCHROME c OXIDASE DEFICIENCY
Component of the following Super Panels:
  • - White matter disorders - childhood onset
Signed-off version 2.4
MITOCHONDRIAL
Phenotypes
LEBER OPTIC ATROPHY, SIDEROBLASTIC ANEMIA, ACQUIRED IDIOPATHIC, CYTOCHROME c OXIDASE DEFICIENCY, MYOGLOBINURIA, RECURRENT, CYTOCHROME c OXIDASE I DEFICIENCY