Optic neuropathy
Gene: MT-ATP6
Mitochondrial - cannot be tested in panel with nuclear genesCreated: 19 Mar 2019, 3:33 p.m.
Mode of inheritance
MITOCHONDRIAL
Phenotypes
Leber optic atrophy, 535000; neurogenic weakness, ataxia, and retinitis pigmentosa; retinopathy
Publications
Comment on list classification: More than 3 cases reported.Created: 7 Sep 2016, 8:27 a.m.
Tag limit of detection for heteroplasmic variants is not validated for WGS testing was removed from gene: MT-ATP6.
Tag limit of detection for heteroplasmic variants is not validated for WGS testing tag was added to gene: MT-ATP6.
Tag gene-checked tag was added to gene: MT-ATP6.
Source London North GLH was added to MT-ATP6. 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).
Mode of inheritance for MT-ATP6 was changed to MITOCHONDRIAL
Publications for MT-ATP6 were set to 7726182; 10676807; 26448634; 26252090; 24118886 (functional evidence); 23266623
Publications for MT-ATP6 were set to 7726182; 10676807; 26448634; 26252090; 24118886 (functional evidence)
Publications for MT-ATP6 were set to 7726182; 10676807; 26448634;26252090
This gene has been classified as Green List (High Evidence).
Phenotypes for MT-ATP6 were set to Leber optic atrophy; 535000; neurogenic weakness, ataxia, and retinitis pigmentosa;retinopathy
Publications for MT-ATP6 were set to 7726182; 10676807;26448634
Publications for MT-ATP6 were set to 7726182;10676807
Phenotypes for MT-ATP6 were set to LEBER OPTIC ATROPHY; 535000;neurogenic weakness, ataxia, and retinitis pigmentosa
Publications for MT-ATP6 were set to 7726182
Phenotypes for MT-ATP6 were set to LEBER OPTIC ATROPHY; 535000
MT-ATP6 was added to Inherited optic neuropathies panel. Sources: UKGTN