This Panel is marked as Internal
Dystonia - childhood onset
Gene: MT-ND6
MT-ND6 (mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6)
EnsemblGeneIds (GRCh38): ENSG00000198695
EnsemblGeneIds (GRCh37): ENSG00000198695
OMIM: 516006, Gene2Phenotype
MT-ND6 is in 15 panels
EnsemblGeneIds (GRCh38): ENSG00000198695
EnsemblGeneIds (GRCh37): ENSG00000198695
OMIM: 516006, Gene2Phenotype
MT-ND6 is in 15 panels
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Details
- Mode of Inheritance
- MITOCHONDRIAL
- Sources
-
- Expert Review Green
- Phenotypes
-
- Leber Optic Atrophy And Dystonia
- OMIM
- 516006
- Clinvar variants
- Variants in MT-ND6
- Penetrance
- None
- Panels with this gene
-
- Structural basal ganglia disorders
- Childhood onset dystonia, chorea or related movement disorder
- Undiagnosed metabolic disorders
- Infantile nystagmus
- Adult onset neurodegenerative disorder
- Retinal disorders
- Optic neuropathy
- Mitochondrial disorders
- NARP syndrome or maternally inherited Leigh syndrome
- Likely inborn error of metabolism
- Early onset dystonia
- Albinism or congenital nystagmus
- Adult onset dystonia, chorea or related movement disorder
- Hereditary neuropathy or pain disorder
- Leber hereditary optic neuropathy
History Filter Activity
9 Jan 2019, Gel status: 4
Panel promoted to version 1.0
Louise Daugherty (Genomics England Curator)Checked against super panel made up of the panel constituents. Ready to promote to version 1
19 Dec 2018, Gel status: 4
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Eleanor Williams (Genomics England Curator)gene: MT-ND6 was added gene: MT-ND6 was added to Dystonia - childhood onset. Sources: Expert Review Green Mode of inheritance for gene gene: MT-ND6 was set to MITOCHONDRIAL Phenotypes for gene: MT-ND6 were set to Leber Optic Atrophy And Dystonia