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Leber hereditary optic neuropathy

Gene: MT-ND6

Green List (high evidence)

MT-ND6 (mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6)
EnsemblGeneIds (GRCh38): ENSG00000198695
EnsemblGeneIds (GRCh37): ENSG00000198695
OMIM: 516006, Gene2Phenotype
MT-ND6 is in 14 panels

3 reviews

Tom Cullup (Great Ormond Street Hospital)

Green List (high evidence)

Mitochondrial - cannot be tested in panel with nuclear genes
Created: 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.

History Filter Activity

16 Sep 2019, Gel status: 3

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