Congenital myopathy

Gene: MT-TL1

Red List (low evidence)

MT-TL1 (mitochondrially encoded tRNA leucine 1 (UUA/G))
EnsemblGeneIds (GRCh38): ENSG00000209082
EnsemblGeneIds (GRCh37): ENSG00000209082
OMIM: 590050, Gene2Phenotype
MT-TL1 is in 19 panels

2 reviews

Anna Sarkozy (Great Ormond Street Hospital)

Red List (low evidence)

Mode of inheritance
MITOCHONDRIAL

Phenotypes
MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS, AND STROKE-LIKE EPISODES; MELAS 540000

Helen Brittain (Genomics England Curator)

Red List (low evidence)

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

History Filter Activity

22 Feb 2017, Gel status: 1

panel promoted to version 1

Helen Brittain (Genomics England Curator)

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.

3 Feb 2017, Gel status: 1

Gene classified by Genomics England curator

Helen Brittain (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

3 Feb 2017, Gel status: 1

Set Phenotypes

Helen Brittain (Genomics England Curator)

Phenotypes for MT-TL1 were set to MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS, AND STROKE-LIKE EPISODES; MELAS 540000

28 Apr 2015, Gel status: 1

Added New Source

GEL ()

MT-TL1 was added to Congenital myopathypanel. Sources: UKGTN