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Mitochondrial disease

Gene: MT-ND1

Green List (high evidence)

MT-ND1 (mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1)
EnsemblGeneIds (GRCh38): ENSG00000198888
EnsemblGeneIds (GRCh37): ENSG00000198888
OMIM: 516000, Gene2Phenotype
MT-ND1 is in 3 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Sources: Expert list
Created: 19 Apr 2020, 3:05 a.m.

Mode of inheritance
MITOCHONDRIAL

Phenotypes
Mitochondrial complex I deficiency; Leber's optic neuropathy; Deafness; Dystonia

Details

Mode of Inheritance
MITOCHONDRIAL
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Mitochondrial complex I deficiency
  • Leber's optic neuropathy
  • Deafness
  • Dystonia
Tags
mtDNA
OMIM
516000
Clinvar variants
Variants in MT-ND1
Penetrance
None
Panels with this gene

History Filter Activity

19 Apr 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: mt-nd1 has been classified as Green List (High Evidence).

19 Apr 2020, Gel status: 3

Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag mtDNA tag was added to gene: MT-ND1.

19 Apr 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: mt-nd1 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-ND1 was added gene: MT-ND1 was added to Mitochondrial disease. Sources: Expert list Mode of inheritance for gene gene: MT-ND1 was set to MITOCHONDRIAL Phenotypes for gene: MT-ND1 were set to Mitochondrial complex I deficiency; Leber's optic neuropathy; Deafness; Dystonia Review for gene: MT-ND1 was set to GREEN