Retinal disorders
Gene: MT-ND6EnsemblGeneIds (GRCh38): ENSG00000198695
EnsemblGeneIds (GRCh37): ENSG00000198695
OMIM: 516006, Gene2Phenotype
MT-ND6 is in 14 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
-
- Albinism or congenital nystagmus
- Structural basal ganglia disorders
- Likely inborn error of metabolism
- NARP syndrome or maternally inherited Leigh syndrome
- Early onset dystonia
- Retinal disorders
- Adult onset neurodegenerative disorder
- Hereditary neuropathy or pain disorder
- Undiagnosed metabolic disorders
- Infantile nystagmus
- Childhood onset dystonia, chorea or related movement disorder
- Mitochondrial disorders
- Optic neuropathy
- Adult onset dystonia, chorea or related movement disorder
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