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Severe Paediatric Disorders v1.174 | MT-ND6 | Achchuthan Shanmugasundram Tag limit of detection for heteroplasmic variants is not validated for WGS testing was removed from gene: MT-ND6. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v1.173 | MT-ND6 | Achchuthan Shanmugasundram Tag limit of detection for heteroplasmic variants is not validated for WGS testing tag was added to gene: MT-ND6. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.12 | MT-ND6 | Louise Daugherty reviewed gene: MT-ND6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.11 | MT-ND6 | Louise Daugherty Publications for gene MT-ND6 were updated from to 30847515 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.10 | MT-ND6 | Louise Daugherty Added phenotypes LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY; LEBER OPTIC ATROPHY; LEBER OPTIC ATROPHY AND DYSTONIA; MELAS SYNDROME; STRIATAL NECROSIS, BILATERAL, WITH DYSTONIA for gene: MT-ND6 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.9 | MT-ND6 | Louise Daugherty Added phenotypes LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY; LEBER OPTIC ATROPHY; LEBER OPTIC ATROPHY AND DYSTONIA; MELAS SYNDROME; STRIATAL NECROSIS, BILATERAL, WITH DYSTONIA for gene: MT-ND6 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.9 | MT-ND6 | Louise Daugherty Added phenotypes LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY; LEBER OPTIC ATROPHY; LEBER OPTIC ATROPHY AND DYSTONIA; MELAS SYNDROME; STRIATAL NECROSIS, BILATERAL, WITH DYSTONIA for gene: MT-ND6 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.8 | MT-ND6 | Louise Daugherty Added phenotypes LEBER OPTIC ATROPHY AND DYSTONIA; LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY; STRIATAL NECROSIS, BILATERAL, WITH DYSTONIA; MELAS SYNDROME; LEBER OPTIC ATROPHY for gene: MT-ND6 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.7 | MT-ND6 | Louise Daugherty Source Next Generation Children Project was added to MT-ND6. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.5 | MT-ND6 |
Louise Daugherty Source Expert Review Green was added to MT-ND6. Rating Changed from Red List (low evidence) to Green List (high evidence) |
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Severe Paediatric Disorders v0.4 | MT-ND6 |
Louise Daugherty gene: MT-ND6 was added gene: MT-ND6 was added to Severe Paediatric Disorders. Sources: Expert list Mode of inheritance for gene gene: MT-ND6 was set to MITOCHONDRIAL |