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Severe Paediatric Disorders

Gene: MT-CYB

Green List (high evidence)

MT-CYB (mitochondrially encoded cytochrome b)
EnsemblGeneIds (GRCh38): ENSG00000198727
EnsemblGeneIds (GRCh37): ENSG00000198727
OMIM: 516020, Gene2Phenotype
MT-CYB is in 8 panels

1 review

Louise Daugherty (Genomics England Curator)

I don't know

Initial gene list (NGC_genelist-20190823_GREEN_dis_moi_forCuration_20200211.xlsx) collated by Dr Courtney French (University of Cambridge University Hospital NHS Foundation), Dr Karyn Megy (Clinical Feedback Lead, NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation), Dr Alba Sanchis-Juan (NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation) and Lucy Raymond (Professor of Medical Genetics and Neurodevelopment, University of Cambridge University Hospital NHS Foundation). Submitted to the PanelApp resource January 2020 on behalf of the Next Generation Children Project, Addenbrookes' Hospital, Cambridge. Gene Symbol submitted: MT-CYB; Recommended initial gene rating: Green List (high evidence); Phenotypes: ENCEPHALOMYOPATHY, MITOCHONDRIAL;CARDIOMYOPATHY, INFANTILE HISTIOCYTOID;MULTISYSTEM DISORDER;EXERCISE INTOLERANCE;PARKINSONISM/MELAS OVERLAP SYNDROME;EXERCISE INTOLERANCE, CARDIOMYOPATHY, AND SEPTOOPTIC DYSPLASIA;LEBER OPTIC ATROPHY; Mode of inheritance: NA
Created: 20 Feb 2020, 5:22 p.m. | Last Modified: 20 Feb 2020, 5:22 p.m.
Panel Version: 0.12

Details

Mode of Inheritance
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
OMIM
516020
Clinvar variants
Variants in MT-CYB
Penetrance
None
Publications
Panels with this gene

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