Early onset dystonia
Gene: MT-ND6EnsemblGeneIds (GRCh38): ENSG00000198695
EnsemblGeneIds (GRCh37): ENSG00000198695
OMIM: 516006, Gene2Phenotype
MT-ND6 is in 14 panels
0 reviews
Details
- Mode of Inheritance
- MITOCHONDRIAL
- Sources
-
- UKGTN
- Phenotypes
-
- Leber Optic Atrophy And Dystonia
- OMIM
- 516006
- Clinvar variants
- Variants in MT-ND6
- Penetrance
- Complete
- Panels with this gene
-
- Undiagnosed metabolic disorders
- Mitochondrial disorders
- Infantile nystagmus
- Childhood onset dystonia, chorea or related movement disorder
- Likely inborn error of metabolism
- Albinism or congenital nystagmus
- Adult onset dystonia, chorea or related movement disorder
- Optic neuropathy
- Adult onset neurodegenerative disorder
- Structural basal ganglia disorders
- Retinal disorders
- NARP syndrome or maternally inherited Leigh syndrome
- Hereditary neuropathy or pain disorder
- Early onset dystonia
History Filter Activity
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.
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.
panel promoted to version 1
Ellen McDonagh (Genomics England Curator)17th Oct 2016: Promoted to version 1. The panel was revised after expert input and internal discussion with the clinical team. Other panels such as hereditary ataxia or dementia may be applied in conjunction with this panel where appropriate for genome analysis.
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene MT-ND6 was changed to MITOCHONDRIAL
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene MT-ND6 was changed to MITOCHONDRIAL
Added New Source
GEL ()MT-ND6 was added to Early onset dystoniapanel. Sources: UKGTN