| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Severe Paediatric Disorders v0.12 | MT-TH | Louise Daugherty reviewed gene: MT-TH: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Paediatric Disorders v0.11 | MT-TH | Louise Daugherty Publications for gene MT-TH were updated from to 30847515 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Paediatric Disorders v0.10 | MT-TH | Louise Daugherty Added phenotypes DEAFNESS, NONSYNDROMIC SENSORINEURAL, MITOCHONDRIAL; PIGMENTARY RETINOPATHY AND SENSORINEURAL DEAFNESS; CARDIOMYOPATHY, IDIOPATHIC DILATED, MITOCHONDRIAL; MERRF/MELAS OVERLAP SYNDROME for gene: MT-TH | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Paediatric Disorders v0.9 | MT-TH | Louise Daugherty Added phenotypes DEAFNESS, NONSYNDROMIC SENSORINEURAL, MITOCHONDRIAL; PIGMENTARY RETINOPATHY AND SENSORINEURAL DEAFNESS; CARDIOMYOPATHY, IDIOPATHIC DILATED, MITOCHONDRIAL; MERRF/MELAS OVERLAP SYNDROME for gene: MT-TH | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Paediatric Disorders v0.9 | MT-TH | Louise Daugherty Added phenotypes DEAFNESS, NONSYNDROMIC SENSORINEURAL, MITOCHONDRIAL; PIGMENTARY RETINOPATHY AND SENSORINEURAL DEAFNESS; CARDIOMYOPATHY, IDIOPATHIC DILATED, MITOCHONDRIAL; MERRF/MELAS OVERLAP SYNDROME for gene: MT-TH | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Paediatric Disorders v0.8 | MT-TH | Louise Daugherty Added phenotypes DEAFNESS, NONSYNDROMIC SENSORINEURAL, MITOCHONDRIAL; CARDIOMYOPATHY, IDIOPATHIC DILATED, MITOCHONDRIAL; MERRF/MELAS OVERLAP SYNDROME; PIGMENTARY RETINOPATHY AND SENSORINEURAL DEAFNESS for gene: MT-TH | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Paediatric Disorders v0.7 | MT-TH | Louise Daugherty Source Next Generation Children Project was added to MT-TH. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Paediatric Disorders v0.5 | MT-TH |
Louise Daugherty Source Expert Review Green was added to MT-TH. Rating Changed from Red List (low evidence) to Green List (high evidence) |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Paediatric Disorders v0.4 | MT-TH |
Louise Daugherty gene: MT-TH was added gene: MT-TH was added to Severe Paediatric Disorders. Sources: Expert list Mode of inheritance for gene gene: MT-TH was set to MITOCHONDRIAL |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||