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Inborn errors of metabolism

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

3 reviews

Carl Fratter (Oxford University Hospitals NHS Trust)

Green List (high evidence)

Mode of inheritance
MITOCHONDRIAL

Variants in this GENE are reported as part of current diagnostic practice

Ellen McDonagh (Genomics England Curator)

Comment on list classification: Both reviewers agree this gene should be promoted from red to green.
Created: 10 Feb 2016, 12:50 p.m.

Shamima Rahman (UCL Institute of Child Health)

Green List (high evidence)

Details

Mode of Inheritance
MITOCHONDRIAL
Sources
Phenotypes
  • ENCEPHALOMYOPATHY, MITOCHONDRIAL
  • CARDIOMYOPATHY, INFANTILE HISTIOCYTOID
  • MULTISYSTEM DISORDER
  • EXERCISE INTOLERANCE
  • PARKINSONISM/MELAS OVERLAP SYNDROME
  • EXERCISE INTOLERANCE, CARDIOMYOPATHY, AND SEPTOOPTIC DYSPLASIA
  • LEBER OPTIC ATROPHY
OMIM
516020
Clinvar variants
Variants in MT-CYB
Penetrance
None
Panels with this gene

History Filter Activity

8 Jan 2019, Gel status: 4

Panel promoted to version 1.0

Ellen McDonagh (Genomics England Curator)

Ellen McDonagh: Comment on mode of pathogenici

16 Dec 2018, Gel status: 4

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Added phenotypes CARDIOMYOPATHY, INFANTILE HISTIOCYTOID; ENCEPHALOMYOPATHY, MITOCHONDRIAL; MULTISYSTEM DISORDER; EXERCISE INTOLERANCE; EXERCISE INTOLERANCE, CARDIOMYOPATHY, AND SEPTOOPTIC DYSPLASIA; PARKINSONISM/MELAS OVERLAP SYNDROME; LEBER OPTIC ATROPHY for gene: MT-CYB

16 Dec 2018, Gel status: 4

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Ellen McDonagh (Genomics England Curator)

gene: MT-CYB was added gene: MT-CYB was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene gene: MT-CYB was set to MITOCHONDRIAL Phenotypes for gene: MT-CYB were set to CARDIOMYOPATHY, INFANTILE HISTIOCYTOID; ENCEPHALOMYOPATHY, MITOCHONDRIAL; MULTISYSTEM DISORDER; EXERCISE INTOLERANCE; EXERCISE INTOLERANCE, CARDIOMYOPATHY, AND SEPTOOPTIC DYSPLASIA; PARKINSONISM/MELAS OVERLAP SYNDROME; LEBER OPTIC ATROPHY