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
-
- London North GLH
- Expert Review Green
- UKGTN
- Phenotypes
-
- Leber hereditary optic neuropathy
- Nystagmus
- severe infantile-onset complex I deficiency
- Tags
- OMIM
- 516006
- Clinvar variants
- Variants in MT-ND6
- Penetrance
- Complete
- 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.
Added Tag
Arina Puzriakova (Genomics England Curator)Tag gene-checked tag was added to gene: MT-ND6.
Added New Source, Status Update
Ivone Leong (Genomics England Curator)Source London North GLH was added to MT-ND6. Rating Changed from Green List (high evidence) to Green List (high evidence)
panel promoted to version 1
Ellen McDonagh (Genomics England Curator)13.09.2016: 'Inherited optic neuropathies' was removed as a relevant disorder from the Posterior segment abnormalities gene panel (version 1.9) and this panel was approved to live. It has been internally reviewed and revised based on evidence available for each gene, and was promoted to version 1 to be used for analysis.
Gene classified by Genomics England curator
Ellen Thomas (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Gene classified by Genomics England curator
Ellen Thomas (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for MT-ND6 were set to Leber hereditary optic neuropathy; Nystagmus;severe infantile-onset complex I deficiency
Set publications
Ellen McDonagh (Genomics England Curator)Publications for MT-ND6 were set to 26448634; 24884847; 24417559; 24398099
Set publications
Ellen McDonagh (Genomics England Curator)Publications for MT-ND6 were set to 26448634; 24884847; 24417559
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for MT-ND6 were set to Leber hereditary optic neuropathy; Nystagmus
Set publications
Ellen McDonagh (Genomics England Curator)Publications for MT-ND6 were set to 26448634
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Amber List (Moderate Evidence).
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Mode of inheritance for MT-ND6 was changed to MITOCHONDRIAL
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Mode of inheritance for MT-ND6 was changed to MITOCHONDRIAL
Added New Source
GEL ()MT-ND6 was added to Inherited optic neuropathies panel. Sources: UKGTN