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.
Tag gene-checked tag was added to gene: MT-ND6.
Source London North GLH was added to MT-ND6. Rating Changed from Green List (high evidence) to Green List (high evidence)
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.
This gene has been classified as Green List (High Evidence).
This gene has been classified as Green List (High Evidence).
Phenotypes for MT-ND6 were set to Leber hereditary optic neuropathy; Nystagmus;severe infantile-onset complex I deficiency
Publications for MT-ND6 were set to 26448634; 24884847; 24417559; 24398099
Publications for MT-ND6 were set to 26448634; 24884847; 24417559
Phenotypes for MT-ND6 were set to Leber hereditary optic neuropathy; Nystagmus
Publications for MT-ND6 were set to 26448634
This gene has been classified as Amber List (Moderate Evidence).
Mode of inheritance for MT-ND6 was changed to MITOCHONDRIAL
Mode of inheritance for MT-ND6 was changed to MITOCHONDRIAL
MT-ND6 was added to Inherited optic neuropathies panel. Sources: UKGTN