Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Severe Paediatric Disorders v0.12 | MT-TK | Louise Daugherty reviewed gene: MT-TK: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.11 | MT-TK | Louise Daugherty Publications for gene MT-TK were updated from to 30847515 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.10 | MT-TK | Louise Daugherty Added phenotypes DIABETES AND DEAFNESS, MATERNALLY INHERITED; PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MYOCLONUS; MERRF SYNDROME; MITOCHONDRIAL NEUROGASTROINTESTINAL ENCEPHALOMYOPATHY SYNDROME for gene: MT-TK | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.9 | MT-TK | Louise Daugherty Added phenotypes DIABETES AND DEAFNESS, MATERNALLY INHERITED; PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MYOCLONUS; MERRF SYNDROME; MITOCHONDRIAL NEUROGASTROINTESTINAL ENCEPHALOMYOPATHY SYNDROME for gene: MT-TK | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.9 | MT-TK | Louise Daugherty Added phenotypes DIABETES AND DEAFNESS, MATERNALLY INHERITED; PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MYOCLONUS; MERRF SYNDROME; MITOCHONDRIAL NEUROGASTROINTESTINAL ENCEPHALOMYOPATHY SYNDROME for gene: MT-TK | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.8 | MT-TK | Louise Daugherty Added phenotypes MITOCHONDRIAL NEUROGASTROINTESTINAL ENCEPHALOMYOPATHY SYNDROME; PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MYOCLONUS; MERRF SYNDROME; DIABETES AND DEAFNESS, MATERNALLY INHERITED for gene: MT-TK | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.7 | MT-TK | Louise Daugherty Source Next Generation Children Project was added to MT-TK. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.5 | MT-TK |
Louise Daugherty Source Expert Review Green was added to MT-TK. Rating Changed from Red List (low evidence) to Green List (high evidence) |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.4 | MT-TK |
Louise Daugherty gene: MT-TK was added gene: MT-TK was added to Severe Paediatric Disorders. Sources: Expert list Mode of inheritance for gene gene: MT-TK was set to MITOCHONDRIAL |