Retinal disorders
Gene: MT-ND6EnsemblGeneIds (GRCh38): ENSG00000198695
EnsemblGeneIds (GRCh37): ENSG00000198695
OMIM: 516006, Gene2Phenotype
MT-ND6 is in 15 panels
2 reviews
Gavin Arno (UCL Institute of Ophthalmology/Moorfields Eye Hospital)
mitochondrialCreated: 30 Aug 2019, 2:12 p.m. | Last Modified: 30 Aug 2019, 2:12 p.m.
Panel Version: 1.159
Ellen McDonagh (Genomics England Curator)
Added watchlist tag. This gene is green on the Inherited optic neuropathies (Version 1.1) gene panel for Leber hereditary optic neuropathy - unsure whether it should be green on the Posterior segment abnormalities gene panel.Created: 15 Mar 2017, 11:50 a.m.
Details
- Mode of Inheritance
- MITOCHONDRIAL
- Sources
-
- NHS GMS
- Expert Review Red
- Tags
- OMIM
- 516006
- Clinvar variants
- Variants in MT-ND6
- Penetrance
- Complete
- 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
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.
Added New Source
Ivone Leong (Genomics England Curator)Source NHS GMS was added to MT-ND6.
Created
Ellen McDonagh (Genomics England Curator)MT-ND6 was created by ellenmcdonagh
Added New Source
Ellen McDonagh (Genomics England Curator)MT-ND6 was added to Posterior segment abnormalitiespanel. Sources: Expert Review Red