1. Genes and Genomic Entities
  2. MT-CYB

MT-CYB

mitochondrially encoded cytochrome b
OMIM: 516020, Gene2Phenotype

8 panels

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

Level 3: Ocular movement disorders
Level 2: Ophthalmological disorders
Version 1.10

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 1.15

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


Version 3.5
Latest signed off version: v3.0 (22 Mar 2023)

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 1.617

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 - targeted testing not possible


Version 4.137
Latest signed off version: v4.0 (22 Mar 2023)

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 3: Mitochondrial
    Level 2: Metabolic disorders
    Version 4.169
    Latest signed off version: v4.0 (22 Mar 2023)

    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


    Version 3.78
    Latest signed off version: v3.0 (22 Mar 2023)

    		review MITOCHONDRIAL
    Sources
    • Expert Review Removed
    • London North GLH
    Tags
    • curated_removed
    Green MT-CYB in Severe Paediatric Disorders


    Version 1.184

    		review MITOCHONDRIAL
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • PARKINSONISM/MELAS OVERLAP SYNDROME
    • CARDIOMYOPATHY, INFANTILE HISTIOCYTOID
    • LEBER OPTIC ATROPHY
    • EXERCISE INTOLERANCE, CARDIOMYOPATHY, AND SEPTOOPTIC DYSPLASIA
    • EXERCISE INTOLERANCE
    • ENCEPHALOMYOPATHY, MITOCHONDRIAL
    • MULTISYSTEM DISORDER