NARP syndrome or maternally inherited Leigh syndrome
Gene: MT-ND6EnsemblGeneIds (GRCh38): ENSG00000198695
EnsemblGeneIds (GRCh37): ENSG00000198695
OMIM: 516006, Gene2Phenotype
MT-ND6 is in 15 panels
2 reviews
Eleanor Williams (Genomics England Curator)
No phenotype in OMIM but checked this is the correct gene in the Test Directory v5 and added the gene-checked tag.Created: 6 Sep 2023, 9:15 p.m. | Last Modified: 6 Sep 2023, 9:15 p.m.
Panel Version: 0.1
Achchuthan Shanmugasundram (Genomics England Curator)
The rating of this gene has been updated to grey following NHS Genomic Medicine Service approval.Created: 29 May 2024, 12:55 p.m. | Last Modified: 29 May 2024, 12:55 p.m.
Panel Version: 1.3
MT-ND6 has been added to the panel for R351 NARP syndrome or maternally inherited Leigh syndrome with a green rating as agreed with the NHS Genomic Medicine Service.Created: 30 Jun 2023, 2:56 p.m. | Last Modified: 30 Jun 2023, 2:56 p.m.
Panel Version: 0.1
Mode of inheritance
MITOCHONDRIAL
Details
- Mode of Inheritance
- MITOCHONDRIAL
- Sources
-
- Expert Review Removed
- NHS GMS
- Tags
- OMIM
- 516006
- Clinvar variants
- Variants in MT-ND6
- Penetrance
- None
- 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
Added Tag
Achchuthan Shanmugasundram (Genomics England Curator)Tag curated_removed tag was added to gene: MT-ND6.
Added New Source, Status Update
Achchuthan Shanmugasundram (Genomics England Curator)Source Expert Review Removed was added to MT-ND6. Rating Changed from Green List (high evidence) to No List (delete)
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 Tag
Eleanor Williams (Genomics England Curator)Tag gene-checked tag was added to gene: MT-ND6.
Created, Added New Source, Set mode of inheritance
Achchuthan Shanmugasundram (Genomics England Curator)gene: MT-ND6 was added gene: MT-ND6 was added to NARP syndrome or maternally inherited Leigh syndrome. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene gene: MT-ND6 was set to MITOCHONDRIAL