Activity

Filter

Cancel
Date Panel Item Activity
11 actions
Severe Paediatric Disorders v1.174 MT-ND5 Achchuthan Shanmugasundram Tag limit of detection for heteroplasmic variants is not validated for WGS testing was removed from gene: MT-ND5.
Severe Paediatric Disorders v1.173 MT-ND5 Achchuthan Shanmugasundram Tag limit of detection for heteroplasmic variants is not validated for WGS testing tag was added to gene: MT-ND5.
Severe Paediatric Disorders v0.12 MT-ND5 Louise Daugherty reviewed gene: MT-ND5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.11 MT-ND5 Louise Daugherty Publications for gene MT-ND5 were updated from to 30847515
Severe Paediatric Disorders v0.10 MT-ND5 Louise Daugherty Added phenotypes LEBER OPTIC ATROPHY; MERRF SYNDROME; LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY; MELAS SYNDROME for gene: MT-ND5
Severe Paediatric Disorders v0.9 MT-ND5 Louise Daugherty Added phenotypes LEBER OPTIC ATROPHY; MERRF SYNDROME; LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY; MELAS SYNDROME for gene: MT-ND5
Severe Paediatric Disorders v0.9 MT-ND5 Louise Daugherty Added phenotypes LEBER OPTIC ATROPHY; MERRF SYNDROME; LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY; MELAS SYNDROME for gene: MT-ND5
Severe Paediatric Disorders v0.8 MT-ND5 Louise Daugherty Added phenotypes MELAS SYNDROME; LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY; LEBER OPTIC ATROPHY; MERRF SYNDROME for gene: MT-ND5
Severe Paediatric Disorders v0.7 MT-ND5 Louise Daugherty Source Next Generation Children Project was added to MT-ND5.
Severe Paediatric Disorders v0.5 MT-ND5 Louise Daugherty Source Expert Review Green was added to MT-ND5.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Severe Paediatric Disorders v0.4 MT-ND5 Louise Daugherty gene: MT-ND5 was added
gene: MT-ND5 was added to Severe Paediatric Disorders. Sources: Expert list
Mode of inheritance for gene gene: MT-ND5 was set to MITOCHONDRIAL