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Mitochondrial disease

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 1 panel

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Sources: Expert list
Created: 19 Apr 2020, 3:02 a.m.

Mode of inheritance
MITOCHONDRIAL

Phenotypes
Leber's optic atrophy; Encephalomyopathy; Cardiomyopathy

Details

Mode of Inheritance
MITOCHONDRIAL
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Leber's optic atrophy
  • Encephalomyopathy
  • Cardiomyopathy
Tags
mtDNA
OMIM
516020
Clinvar variants
Variants in MT-CYB
Penetrance
None
Panels with this gene

History Filter Activity

19 Apr 2020, Gel status: 3

Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag mtDNA tag was added to gene: MT-CYB.

19 Apr 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: mt-cyb has been classified as Green List (High Evidence).

19 Apr 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: mt-cyb has been classified as Green List (High Evidence).

19 Apr 2020, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: MT-CYB was added gene: MT-CYB was added to Mitochondrial disease. Sources: Expert list Mode of inheritance for gene gene: MT-CYB was set to MITOCHONDRIAL Phenotypes for gene: MT-CYB were set to Leber's optic atrophy; Encephalomyopathy; Cardiomyopathy Review for gene: MT-CYB was set to GREEN