Genomics England
GMS Panels
Panels
Genes and Entities

MT-CO1

mitochondrially encoded cytochrome c oxidase I
OMIM: 516030
PanelMode of inheritanceDetails
4 panels
Green
in Acute rhabdomyolysis
R-numbers: R419
Signed-off version 1.7
MITOCHONDRIAL
Phenotypes
Leber hereditary optic neuropathy, Myoglobinuria
Green
in Likely inborn error of metabolism - targeted testing not possible
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
  • - Unexplained death in infancy and sudden unexplained death in childhood
R-numbers: R98
Signed-off version 4.78
MITOCHONDRIAL
Phenotypes
CYTOCHROME c OXIDASE I DEFICIENCY, SIDEROBLASTIC ANEMIA, ACQUIRED IDIOPATHIC, LEBER OPTIC ATROPHY, MYOGLOBINURIA, RECURRENT, CYTOCHROME c OXIDASE DEFICIENCY
Green
in Mitochondrial disorders
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
Signed-off version 4.114
MITOCHONDRIAL
Phenotypes
LEBER OPTIC ATROPHY, SIDEROBLASTIC ANEMIA, ACQUIRED IDIOPATHIC, CYTOCHROME c OXIDASE DEFICIENCY, MYOGLOBINURIA, RECURRENT, CYTOCHROME c OXIDASE I DEFICIENCY
Green
in Rhabdomyolysis and metabolic muscle disorders
Component of the following Super Panels:
  • - Hypotonic infant
  • - Other rare neuromuscular disorders
Signed-off version 3.39
MITOCHONDRIAL
Phenotypes
Leber hereditary optic neuropathy, MONDO:0010788, myoglobinuria, MONDO:0000866