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Likely inborn error of metabolism - targeted testing not possible v4.52 MT-ND4L Achchuthan Shanmugasundram Tag limit of detection for heteroplasmic variants is not validated for WGS testing was removed from gene: MT-ND4L.
Likely inborn error of metabolism - targeted testing not possible v4.49 MT-ND4L Achchuthan Shanmugasundram Tag limit of detection for heteroplasmic variants is not validated for WGS testing tag was added to gene: MT-ND4L.
Likely inborn error of metabolism - targeted testing not possible v2.250 MT-ND4L Catherine Snow Tag gene-checked tag was added to gene: MT-ND4L.
Likely inborn error of metabolism - targeted testing not possible v0.4 MT-ND4L Ellen McDonagh Added phenotypes LEBER OPTIC ATROPHY for gene: MT-ND4L
Likely inborn error of metabolism - targeted testing not possible v0.4 MT-ND4L Ellen McDonagh gene: MT-ND4L was added
gene: MT-ND4L was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene gene: MT-ND4L was set to MITOCHONDRIAL
Phenotypes for gene: MT-ND4L were set to LEBER OPTIC ATROPHY