Infantile nystagmus
Gene: MT-ND6EnsemblGeneIds (GRCh38): ENSG00000198695
EnsemblGeneIds (GRCh37): ENSG00000198695
OMIM: 516006, Gene2Phenotype
MT-ND6 is in 15 panels
1 review
Ellen McDonagh (Genomics England Curator)
Mode of inheritance
MITOCHONDRIAL
Phenotypes
Nystagmus
Publications
Details
- Mode of Inheritance
- MITOCHONDRIAL
- Sources
-
- Expert Review Red
- Literature
- Phenotypes
-
- Nystagmus
- OMIM
- 516006
- Clinvar variants
- Variants in MT-ND6
- Penetrance
- Complete
- Publications
- 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
- Hereditary neuropathy or pain disorder
- Albinism or congenital nystagmus
- Adult onset dystonia, chorea or related movement disorder
- Leber hereditary optic neuropathy
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)21/Dec/2016: panel revised according to expert review, addition of green genes from the Ocular and oculo-cutaneous albinism (Version 1.1) gene panel and further curation.
Gene classified by Genomics England curator
Alice Gardham (Genomics England)This gene has been classified as Red List (Low Evidence).
Gene classified by Genomics England curator
Alice Gardham (Genomics England)This gene has been classified as Red List (Low Evidence).
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 Infantile nystagmuspanel. Sources: Literature