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  3. MT-ND6
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Mitochondrial disease

Gene: MT-ND6

Green List (high evidence)
MT-ND6 (mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6)
EnsemblGeneIds (GRCh38): ENSG00000198695
EnsemblGeneIds (GRCh37): ENSG00000198695
OMIM: 516006, Gene2Phenotype
MT-ND6 is in 4 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Sources: Expert list
Created: 19 Apr 2020, 3:18 a.m.

Mode of inheritance
MITOCHONDRIAL

Phenotypes
Mitochondrial cardiomyopathy complex I deficiency; Leber's optic neuropathy; MELAS; Dystonia; Striatal necrosis, bilateral

Created: 19 Apr 2020, 3:18 a.m.

Panel version: 0.384

Details

Mode of Inheritance
MITOCHONDRIAL
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Mitochondrial cardiomyopathy complex I deficiency
  • Leber's optic neuropathy
  • MELAS
  • Dystonia
  • Striatal necrosis, bilateral
Tags
mtDNA
OMIM
516006
Clinvar variants
Variants in MT-ND6
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-ND6.

19 Apr 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: mt-nd6 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-nd6 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-ND6 was added gene: MT-ND6 was added to Mitochondrial disease. Sources: Expert list Mode of inheritance for gene gene: MT-ND6 was set to MITOCHONDRIAL Phenotypes for gene: MT-ND6 were set to Mitochondrial cardiomyopathy complex I deficiency; Leber's optic neuropathy; MELAS; Dystonia; Striatal necrosis, bilateral Review for gene: MT-ND6 was set to GREEN