Congenital muscular dystrophy and congenital myopathy
Gene: MT-TL1EnsemblGeneIds (GRCh38): ENSG00000209082
EnsemblGeneIds (GRCh37): ENSG00000209082
OMIM: 590050, Gene2Phenotype
MT-TL1 is in 22 panels
2 reviews
Anna Sarkozy (Great Ormond Street Hospital)
Mode of inheritance
MITOCHONDRIAL
Phenotypes
MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS, AND STROKE-LIKE EPISODES; MELAS 540000
Helen Brittain (Genomics England Curator)
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
Details
- Mode of Inheritance
- MITOCHONDRIAL
- Sources
-
- Expert Review Red
- UKGTN
- Phenotypes
-
- MELAS syndrome, MONDO:0010789
- OMIM
- 590050
- Clinvar variants
- Variants in MT-TL1
- Penetrance
- Complete
- Panels with this gene
-
- Likely inborn error of metabolism
- Monogenic hearing loss
- Monogenic diabetes
- Undiagnosed metabolic disorders
- Optic neuropathy
- Fetal hydrops
- Arthrogryposis
- Childhood onset dystonia, chorea or related movement disorder
- Mitochondrial disorders
- Diabetes with additional phenotypes suggestive of a monogenic aetiology
- Retinal disorders
- Paediatric or syndromic cardiomyopathy
- Hereditary neuropathy or pain disorder
- Familial diabetes
- Multi-organ autoimmune diabetes
- Early onset or syndromic epilepsy
- Congenital myopathy
- Hypertrophic cardiomyopathy
- Fetal anomalies
- DDG2P
- Hereditary neuropathy
- Sudden death in young people
History Filter Activity
Created, Added New Source, Set mode of inheritance, Set Phenotypes, Set penetrance
Arina Puzriakova (Genomics England Curator)gene: MT-TL1 was added gene: MT-TL1 was added to Congenital muscular dystrophy and congenital myopathy. Sources: UKGTN,Expert Review Red Mode of inheritance for gene gene: MT-TL1 was set to MITOCHONDRIAL Phenotypes for gene: MT-TL1 were set to MELAS syndrome, MONDO:0010789 Penetrance for gene: MT-TL1 were set to Complete