Optic neuropathy
Gene: MT-ND4Comment 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/412Created: 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.
Tag limit of detection for heteroplasmic variants is not validated for WGS testing was removed from gene: MT-ND4.
Tag limit of detection for heteroplasmic variants is not validated for WGS testing tag was added to gene: MT-ND4.
Tag gene-checked tag was added to gene: MT-ND4.
Source London North GLH was added to MT-ND4. 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).
Publications for MT-ND4 were set to 26448634; 20301353; 27159682; 26683077; 23805034; 23665487; 22553750
Publications for MT-ND4 were set to 26448634; 20301353; 27159682; 26683077; 23805034; 23665487
This gene has been classified as Amber List (Moderate Evidence).
Publications for MT-ND4 were set to 26448634; 20301353; 27159682; 26683077;23805034
Mode of inheritance for MT-ND4 was changed to MITOCHONDRIAL
Publications for MT-ND4 were set to 26448634; 20301353; 27159682;26683077
Phenotypes for MT-ND4 were set to Leber's hereditary optic neuropathy
Publications for MT-ND4 were set to 26448634; 20301353;27159682
Publications for MT-ND4 were set to 26448634;20301353
Phenotypes for MT-ND4 were set to
Publications for MT-ND4 were set to 26448634
Phenotypes for MT-ND4 were set to Retinal degeneration and nystagmus
MT-ND4 was added to Inherited optic neuropathies panel. Sources: UKGTN