Genomics England
GMS Panels
Panels
Genes and Entities

MT-CO2

mitochondrially encoded cytochrome c oxidase II
OMIM: 516040
PanelMode of inheritanceDetails
4 panels
Green
in Acute rhabdomyolysis
R-numbers: R419
Signed-off version 1.7
MITOCHONDRIAL
Phenotypes
Cytochrome oxidase deficiency, rhabdomyolysis
Green
in Likely inborn error of metabolism
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 7.0
MITOCHONDRIAL
Phenotypes
CYTOCHROME c OXIDASE DEFICIENCY
Green
in Mitochondrial disorders
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
Signed-off version 8.0
MITOCHONDRIAL
Phenotypes
CYTOCHROME c OXIDASE DEFICIENCY
Green
in Rhabdomyolysis and metabolic muscle disorders
Component of the following Super Panels:
  • - Hypotonic infant
  • - Other rare neuromuscular disorders
Signed-off version 5.1
MITOCHONDRIAL
Phenotypes
Cytochrome oxidase deficiency, rhabdomyolysis, MONDO:0005290, myoglobinuria, MONDO:0000866