Mitochondrial disease
Gene: MT-ND4
MT-ND4 (mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4)
EnsemblGeneIds (GRCh38): ENSG00000198886
EnsemblGeneIds (GRCh37): ENSG00000198886
OMIM: 516003, Gene2Phenotype
MT-ND4 is in 3 panels
EnsemblGeneIds (GRCh38): ENSG00000198886
EnsemblGeneIds (GRCh37): ENSG00000198886
OMIM: 516003, Gene2Phenotype
MT-ND4 is in 3 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Sources: Expert listCreated: 19 Apr 2020, 3:11 a.m.
Mode of inheritance
MITOCHONDRIAL
Phenotypes
Mitochondrial complex I deficiency; Leber's optic neuropathy; Dystonia
Details
- Mode of Inheritance
- MITOCHONDRIAL
- Sources
-
- Expert Review Green
- Expert list
- Phenotypes
-
- Mitochondrial complex I deficiency
- Leber's optic neuropathy
- Dystonia
- Tags
- OMIM
- 516003
- Clinvar variants
- Variants in MT-ND4
- 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-ND4.
19 Apr 2020, Gel status: 3
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: mt-nd4 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-nd4 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-ND4 was added gene: MT-ND4 was added to Mitochondrial disease. Sources: Expert list Mode of inheritance for gene gene: MT-ND4 was set to MITOCHONDRIAL Phenotypes for gene: MT-ND4 were set to Mitochondrial complex I deficiency; Leber's optic neuropathy; Dystonia Review for gene: MT-ND4 was set to GREEN