Albinism or congenital nystagmus
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
0 reviews
Details
- Mode of Inheritance
- MITOCHONDRIAL
- Sources
-
- Expert Review Red
- Phenotypes
-
- Nystagmus
- OMIM
- 516006
- Clinvar variants
- Variants in MT-ND6
- Penetrance
- None
- Publications
- Panels with this gene
-
- Childhood onset dystonia, chorea or related movement disorder
- Structural basal ganglia disorders
- Adult onset dystonia, chorea or related movement disorder
- Mitochondrial disorders
- Infantile nystagmus
- Optic neuropathy
- Adult onset neurodegenerative disorder
- Retinal disorders
- Likely inborn error of metabolism
- NARP syndrome or maternally inherited Leigh syndrome
- Early onset dystonia
- Albinism or congenital nystagmus
- Leber hereditary optic neuropathy
- Hereditary neuropathy or pain disorder
- Undiagnosed metabolic disorders
History Filter Activity
18 Oct 2023, Gel status: 1
Removed Tag
Achchuthan Shanmugasundram (Genomics England Curator)Tag limit of detection for heteroplasmic variants is not validated for WGS testing was removed from gene: MT-ND6.
12 Sep 2023, Gel status: 1
Added Tag
Achchuthan Shanmugasundram (Genomics England Curator)Tag limit of detection for heteroplasmic variants is not validated for WGS testing tag was added to gene: MT-ND6.
3 Jan 2019, Gel status: 1
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Ellen McDonagh (Genomics England Curator)gene: MT-ND6 was added gene: MT-ND6 was added to Albinism or congenital nystagmus. Sources: Expert Review Red Mode of inheritance for gene gene: MT-ND6 was set to MITOCHONDRIAL Publications for gene: MT-ND6 were set to 26448634 Phenotypes for gene: MT-ND6 were set to Nystagmus