Leber hereditary optic neuropathyGene: MT-ND4
Comment on list classification: This is a major cause of Leber hereditary optic neuropathy. There are likely to be modifiers but this still represents the major explanation in many patients.
Created: 11 Sep 2016, 9:11 a.m.
Added the tag ‘gene-therapy-trial’ as this gene is within the Gene Therapy Panel available here: https://panelapp.genomicsengland.co.uk/panels/412
Created: 14 May 2018, 9:49 a.m.
Comment on list classification: Variants in other mitochondrial genes may be interplay to modify disease (PMID: 23805034, 23665487, 22553750).
Created: 7 Sep 2016, 9:16 a.m.
gene: MT-ND4 was added gene: MT-ND4 was added to Leber hereditary optic neuropathy. Sources: Expert Review Green,Expert List Mode of inheritance for gene gene: MT-ND4 was set to MITOCHONDRIAL Publications for gene: MT-ND4 were set to 26448634; 27159682; 23665487; 23805034; 26683077; 22553750; 20301353 Phenotypes for gene: MT-ND4 were set to Leber's hereditary optic neuropathy