MT-CYB

mitochondrially encoded cytochrome b
OMIM: 516020, Gene2Phenotype

7 panels

Panel Reviews Mode of inheritance Details
7 panels
Red MT-CYB in Infantile nystagmus

Level 3: Ocular movement disorders
Level 2: Ophthalmological disorders
Version 1.11

review MITOCHONDRIAL
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Nystagmus
No list MT-CYB in Sudden death in young people

Level 3: Cardiac arrhythmia
Level 2: Cardiovascular disorders
Version 1.16

review MITOCHONDRIAL
Sources
  • Expert Review Removed
  • Other
Phenotypes
  • cardiomyopathy infantile histiocytoid, 500000
  • infantile cardiomyopathy with histiocytoid change
  • cardiac arrest
Tags
  • curated_removed
Red MT-CYB in Albinism or congenital nystagmus


Level 2: Ophthalmology
Version 4.2
Latest signed off version: v4.0 (30 Apr 2025)

review MITOCHONDRIAL
Sources
  • Expert Review Red
Phenotypes
  • Nystagmus
Green MT-CYB in Undiagnosed metabolic disorders

Level 3: Specific metabolic abnormalities
Level 2: Metabolic disorders
Version 1.642

review MITOCHONDRIAL
Sources
  • Expert Review Green
Phenotypes
  • LEBER OPTIC ATROPHY
  • ENCEPHALOMYOPATHY, MITOCHONDRIAL
  • MULTISYSTEM DISORDER
  • EXERCISE INTOLERANCE
  • CARDIOMYOPATHY, INFANTILE HISTIOCYTOID
  • EXERCISE INTOLERANCE, CARDIOMYOPATHY, AND SEPTOOPTIC DYSPLASIA
  • PARKINSONISM/MELAS OVERLAP SYNDROME
Tags
  • gene-checked
Green MT-CYB in Likely inborn error of metabolism


Level 2: Metabolic
Version 8.91
Latest signed off version: v8.0 (30 Apr 2025)

Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders
  • Unexplained death in infancy and sudden unexplained death in childhood
  • review MITOCHONDRIAL
    Sources
    • Expert Review Green
    Phenotypes
    • ENCEPHALOMYOPATHY, MITOCHONDRIAL
    • CARDIOMYOPATHY, INFANTILE HISTIOCYTOID
    • MULTISYSTEM DISORDER
    • EXERCISE INTOLERANCE
    • PARKINSONISM/MELAS OVERLAP SYNDROME
    • EXERCISE INTOLERANCE, CARDIOMYOPATHY, AND SEPTOOPTIC DYSPLASIA
    • LEBER OPTIC ATROPHY
    Tags
    • gene-checked
    Green MT-CYB in Mitochondrial disorders


    Level 2: Mitochondrial
    Version 9.41
    Latest signed off version: v9.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • review MITOCHONDRIAL
    Sources
    • Expert Review Green
    • UKGTN
    Phenotypes
    • LEBER OPTIC ATROPHY
    • ENCEPHALOMYOPATHY, MITOCHONDRIAL
    • MULTISYSTEM DISORDER
    • EXERCISE INTOLERANCE
    • CARDIOMYOPATHY, INFANTILE HISTIOCYTOID
    • EXERCISE INTOLERANCE, CARDIOMYOPATHY, AND SEPTOOPTIC DYSPLASIA
    • PARKINSONISM/MELAS OVERLAP SYNDROME
    Tags
    • gene-checked
    No list MT-CYB in Childhood onset dystonia, chorea or related movement disorder


    Level 2: Neurology
    Version 7.13
    Latest signed off version: v7.0 (30 Apr 2025)

    review MITOCHONDRIAL
    Sources
    • Expert Review Removed
    • London North GLH
    Tags
    • curated_removed