Leber hereditary optic neuropathy
Gene: MT-ND6
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
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.
Tag limit of detection for heteroplasmic variants is not validated for WGS testing was removed from gene: MT-ND6.
Tag limit of detection for heteroplasmic variants is not validated for WGS testing tag was added to gene: MT-ND6.
Publications for gene: MT-ND6 were set to 26448634; 24884847; 24398099; 24417559
Tag gene-checked tag was added to gene: MT-ND6.
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