Likely inborn error of metabolism - targeted testing not possible
Gene: MT-ND6
Mode of inheritance
MITOCHONDRIAL
Variants in this GENE are reported as part of current diagnostic practice
Comment on list classification: Both reviewers agree this gene should be promoted from red to green.Created: 10 Feb 2016, 1:03 p.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.
Ellen McDonagh: Comment on mode of pathogenici
Added phenotypes LEBER OPTIC ATROPHY AND DYSTONIA; STRIATAL NECROSIS, BILATERAL, WITH DYSTONIA; MELAS SYNDROME; LEBER OPTIC ATROPHY; LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY for gene: MT-ND6
gene: MT-ND6 was added gene: MT-ND6 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene gene: MT-ND6 was set to MITOCHONDRIAL Phenotypes for gene: MT-ND6 were set to LEBER OPTIC ATROPHY AND DYSTONIA; STRIATAL NECROSIS, BILATERAL, WITH DYSTONIA; MELAS SYNDROME; LEBER OPTIC ATROPHY; LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY