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Severe Paediatric Disorders v0.12 MT-TI Louise Daugherty reviewed gene: MT-TI: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.11 MT-TI Louise Daugherty Publications for gene MT-TI were updated from to 30847515
Severe Paediatric Disorders v0.10 MT-TI Louise Daugherty Added phenotypes CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC; HYPERTENSION, HYPERCHOLESTEROLEMIA, AND HYPOMAGNESEMIA, MITOCHONDRIAL; ENCEPHALOPATHY, FAMILIAL PROGRESSIVE NECROTIZING; CARDIOMYOPATHY, FATAL; CARDIOMYOPATHY, FATAL INFANTILE; MULTISYSTEM DISORDER for gene: MT-TI
Severe Paediatric Disorders v0.9 MT-TI Louise Daugherty Added phenotypes CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC; HYPERTENSION, HYPERCHOLESTEROLEMIA, AND HYPOMAGNESEMIA, MITOCHONDRIAL; ENCEPHALOPATHY, FAMILIAL PROGRESSIVE NECROTIZING; CARDIOMYOPATHY, FATAL; CARDIOMYOPATHY, FATAL INFANTILE; MULTISYSTEM DISORDER for gene: MT-TI
Severe Paediatric Disorders v0.9 MT-TI Louise Daugherty Added phenotypes CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC; HYPERTENSION, HYPERCHOLESTEROLEMIA, AND HYPOMAGNESEMIA, MITOCHONDRIAL; ENCEPHALOPATHY, FAMILIAL PROGRESSIVE NECROTIZING; CARDIOMYOPATHY, FATAL; CARDIOMYOPATHY, FATAL INFANTILE; MULTISYSTEM DISORDER for gene: MT-TI
Severe Paediatric Disorders v0.8 MT-TI Louise Daugherty Added phenotypes CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC; CARDIOMYOPATHY, FATAL; MULTISYSTEM DISORDER; ENCEPHALOPATHY, FAMILIAL PROGRESSIVE NECROTIZING; HYPERTENSION, HYPERCHOLESTEROLEMIA, AND HYPOMAGNESEMIA, MITOCHONDRIAL; CARDIOMYOPATHY, FATAL INFANTILE for gene: MT-TI
Severe Paediatric Disorders v0.7 MT-TI Louise Daugherty Source Next Generation Children Project was added to MT-TI.
Severe Paediatric Disorders v0.5 MT-TI Louise Daugherty Source Expert Review Green was added to MT-TI.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Severe Paediatric Disorders v0.4 MT-TI Louise Daugherty gene: MT-TI was added
gene: MT-TI was added to Severe Paediatric Disorders. Sources: Expert list
Mode of inheritance for gene gene: MT-TI was set to MITOCHONDRIAL