Leber hereditary optic neuropathy
Gene: MT-ND6EnsemblGeneIds (GRCh38): ENSG00000198695
EnsemblGeneIds (GRCh37): ENSG00000198695
OMIM: 516006, Gene2Phenotype
MT-ND6 is in 15 panels
3 reviews
Tom Cullup (Great Ormond Street Hospital)
Mitochondrial - cannot be tested in panel with nuclear genesCreated: 19 Mar 2019, 3:33 p.m.
Mode of inheritance
MITOCHONDRIAL
Phenotypes
Leber hereditary optic neuropathy; Nystagmus; severe infantile-onset complex I deficiency
Publications
Ellen Thomas (Genomics England Curator)
Comment on list classification: This is a major cause of LHON.Created: 11 Sep 2016, 9:12 a.m.
Ellen McDonagh (Genomics England Curator)
Comment on list classification: Variants often reported in combination with variants in other mitochondrial genes in patients with optic neuropathy e.g. PMID: 26448634, 24884847, 24417559. Variants reported in this gene in both Europeans and Southeast Asian with Leber hereditary optic neuropathy. Identified in 3 patients with Nystagmus in PMID: 26448634.Created: 7 Sep 2016, 9:33 a.m.
Details
- Mode of Inheritance
- MITOCHONDRIAL
- Sources
-
- Expert List
- Expert Review Green
- Phenotypes
-
- severe infantile-onset complex I deficiency
- Nystagmus
- Leber hereditary optic neuropathy
- Tags
- OMIM
- 516006
- Clinvar variants
- Variants in MT-ND6
- Penetrance
- None
- Publications
- Panels with this gene
-
- Structural basal ganglia disorders
- Retinal disorders
- Undiagnosed metabolic disorders
- Infantile nystagmus
- Adult onset neurodegenerative disorder
- Childhood onset dystonia, chorea or related movement disorder
- Optic neuropathy
- NARP syndrome or maternally inherited Leigh syndrome
- Mitochondrial disorders
- Early onset dystonia
- Albinism or congenital nystagmus
- Adult onset dystonia, chorea or related movement disorder
- Leber hereditary optic neuropathy
- Hereditary neuropathy or pain disorder
- Likely inborn error of metabolism
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.
Set publications
Achchuthan Shanmugasundram (Genomics England Curator)Publications for gene: MT-ND6 were set to 26448634; 24884847; 24398099; 24417559
Added Tag
Arina Puzriakova (Genomics England Curator)Tag gene-checked tag was added to gene: MT-ND6.
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Ivone Leong (Genomics England Curator)gene: MT-ND6 was added gene: MT-ND6 was added to Leber hereditary optic neuropathy. Sources: Expert Review Green,Expert List Mode of inheritance for gene gene: MT-ND6 was set to MITOCHONDRIAL Publications for gene: MT-ND6 were set to 26448634; 24884847; 24398099; 24417559 Phenotypes for gene: MT-ND6 were set to severe infantile-onset complex I deficiency; Nystagmus; Leber hereditary optic neuropathy