Paediatric pseudo-obstruction syndrome
Gene: MT-TL1
MT-TL1 (mitochondrially encoded tRNA leucine 1 (UUA/G))
EnsemblGeneIds (GRCh38): ENSG00000209082
EnsemblGeneIds (GRCh37): ENSG00000209082
OMIM: 590050, Gene2Phenotype
MT-TL1 is in 23 panels
EnsemblGeneIds (GRCh38): ENSG00000209082
EnsemblGeneIds (GRCh37): ENSG00000209082
OMIM: 590050, Gene2Phenotype
MT-TL1 is in 23 panels
1 review
Katherine Schon (University of Cambridge)
Intestinal pseudo-obstruction is observed as one of the phenotypes of the multi-system mitochondrial disease associated with the m.3243A>G pathogenic variant.
Sources: LiteratureCreated: 8 Aug 2026, 1:06 p.m.
Mode of inheritance
MITOCHONDRIAL
Phenotypes
Intestinal pseudo-obstruction HP:0004389
Publications
Mode of pathogenicity
Other
Details
- Mode of Inheritance
- MITOCHONDRIAL
- Sources
-
- Phenotypes
-
- Intestinal pseudo-obstruction HP:0004389
- OMIM
- 590050
- Clinvar variants
- Variants in MT-TL1
- Penetrance
- Incomplete
- Publications
- Mode of Pathogenicity
- Other
- Panels with this gene
-
- Paediatric or syndromic cardiomyopathy
- Sudden death in young people
- Optic neuropathy
- Hypertrophic cardiomyopathy
- Hereditary neuropathy or pain disorder
- Fetal anomalies
- Likely inborn error of metabolism
- Undiagnosed metabolic disorders
- Fetal hydrops
- Diabetes with additional phenotypes suggestive of a monogenic aetiology
- Monogenic diabetes
- Paediatric pseudo-obstruction syndrome
- Monogenic hearing loss
- Retinal disorders
- Hereditary neuropathy
- Familial diabetes
- DDG2P
- Congenital myopathy
- Arthrogryposis
- Multi-organ autoimmune diabetes
- Mitochondrial disorders
- Childhood onset dystonia, chorea or related movement disorder
- Early onset or syndromic epilepsy
History Filter Activity
8 Aug 2026, Gel status: 0
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set penetrance, Set mode of pathogenicity
Katherine Schon (University of Cambridge)gene: MT-TL1 was added gene: MT-TL1 was added to Paediatric pseudo-obstruction syndrome. Sources: Literature Mode of inheritance for gene gene: MT-TL1 was set to MITOCHONDRIAL Publications for gene: MT-TL1 were set to PMID: 27453452; 42024134; 28458318 Phenotypes for gene: MT-TL1 were set to Intestinal pseudo-obstruction HP:0004389 Penetrance for gene: MT-TL1 were set to Incomplete Mode of pathogenicity for gene: MT-TL1 was set to Other Review for gene: MT-TL1 was set to GREEN