Optic neuropathy
Gene: MT-ND1
Mitochondrial - cannot be tested in panel with nuclear genesCreated: 19 Mar 2019, 3:33 p.m.
Mode of inheritance
MITOCHONDRIAL
Phenotypes
Optic neuropathy and nystagmus; External ophthalmoplegia; Leber's hereditary optic neuropathy
Publications
Comment on list classification: More than 3 unrelated cases reported.Created: 7 Sep 2016, 8:53 a.m.
Tag limit of detection for heteroplasmic variants is not validated for WGS testing was removed from gene: MT-ND1.
Tag limit of detection for heteroplasmic variants is not validated for WGS testing tag was added to gene: MT-ND1.
Tag gene-checked tag was added to gene: MT-ND1.
Source London North GLH was added to MT-ND1. 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).
Publications for MT-ND1 were set to 26448634; 27449621; 20301353; 27177320; 24884847; 24800637; 23665487
This gene has been classified as Green List (High Evidence).
Publications for MT-ND1 were set to 26448634; 27449621; 20301353; 27177320; 24884847;24800637
Publications for MT-ND1 were set to 26448634; 27449621; 20301353; 27177320;24884847
Publications for MT-ND1 were set to 26448634; 27449621; 20301353;27177320
Publications for MT-ND1 were set to 26448634; 27449621;20301353
Publications for MT-ND1 were set to 26448634;27449621
Phenotypes for MT-ND1 were set to Optic neuropathy and nystagmus; External ophthalmoplegia;Leber's hereditary optic neuropathy
Phenotypes for MT-ND1 were set to Optic neuropathy and nystagmus;External ophthalmoplegia
Phenotypes for MT-ND1 were set to Optic neuropathy and nystagmus
Publications for MT-ND1 were set to 26448634
Mode of inheritance for MT-ND1 was changed to MITOCHONDRIAL
MT-ND1 was added to Inherited optic neuropathies panel. Sources: UKGTN