Congenital myopathy
Gene: MT-TL1
Mode of inheritance
MITOCHONDRIAL
Phenotypes
MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS, AND STROKE-LIKE EPISODES; MELAS 540000
Comment when marking as ready: Mitochondrial gene. Well established cause of MELAS / MERRF / MIDD but none of these would be expected to present at birth / early infancy with myopathy.Created: 3 Feb 2017, 12:13 p.m.
Mitochondrial gene. Well established cause of MELAS / MERRF / MIDD but none of these would be expected to present at birth / early infancy with myopathy.Created: 31 Jan 2017, 10:21 a.m.
Mode of inheritance
MITOCHONDRIAL
Phenotypes
MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS, AND STROKE-LIKE EPISODES; MELAS 540000
Phenotypes for gene: MT-TL1 were changed from MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS, AND STROKE-LIKE EPISODES; MELAS 540000 to MELAS syndrome, MONDO:0010789
Promoted 22/02/2017 after curation discussion and further review with members of the Genomics England curation team. Participants who are offered this panel will automatically be offered the following three panels: 1) Congenital muscular dystrophy 2) Congenital myasthenia and 3) Paediatric motor neuronopathy as this will cover a large range of differentials for a weak infant, for where the strict inclusion criteria are not applicable in view of the availability of muscle biopsy testing in peripheral paediatric units.
This gene has been classified as Red List (Low Evidence).
Phenotypes for MT-TL1 were set to MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS, AND STROKE-LIKE EPISODES; MELAS 540000
MT-TL1 was added to Congenital myopathypanel. Sources: UKGTN