MT-CYB

mitochondrially encoded cytochrome b
OMIM: 516020
PanelMode of inheritanceDetails
2 panels
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 5.6
MITOCHONDRIAL
Phenotypes
ENCEPHALOMYOPATHY, MITOCHONDRIAL, CARDIOMYOPATHY, INFANTILE HISTIOCYTOID, MULTISYSTEM DISORDER, EXERCISE INTOLERANCE, PARKINSONISM/MELAS OVERLAP SYNDROME, EXERCISE INTOLERANCE, CARDIOMYOPATHY, AND SEPTOOPTIC DYSPLASIA, LEBER OPTIC ATROPHY
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
Signed-off version 6.4
MITOCHONDRIAL
Phenotypes
LEBER OPTIC ATROPHY, ENCEPHALOMYOPATHY, MITOCHONDRIAL, MULTISYSTEM DISORDER, EXERCISE INTOLERANCE, CARDIOMYOPATHY, INFANTILE HISTIOCYTOID, EXERCISE INTOLERANCE, CARDIOMYOPATHY, AND SEPTOOPTIC DYSPLASIA, PARKINSONISM/MELAS OVERLAP SYNDROME