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
-
- 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.
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