Leber hereditary optic neuropathyGene: MT-ND6
Comment on list classification: This is a major cause of LHON.
Created: 11 Sep 2016, 9:12 a.m.
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.
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