Paediatric pseudo-obstruction syndrome
Gene: MT-TL1EnsemblGeneIds (GRCh38): ENSG00000209082
EnsemblGeneIds (GRCh37): ENSG00000209082
OMIM: 590050, Gene2Phenotype
MT-TL1 is in 23 panels
2 reviews
William Macken (North Thames GMS)
Pseudo-obstruction is well reported in patients with MELAS and is commonly seen in the UK mitochondrial population.Created: 17 Sep 2026, 9:20 a.m. | Last Modified: 17 Sep 2026, 9:20 a.m.
Panel Version: 2.8
Mode of inheritance
MITOCHONDRIAL
Phenotypes
Intestinal pseudo-obstruction HP:0004389
Publications
Variants in this GENE are reported as part of current diagnostic practice
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
-
- Sudden death in young people
- Early onset or syndromic epilepsy
- Paediatric pseudo-obstruction syndrome
- Paediatric or syndromic cardiomyopathy
- Undiagnosed metabolic disorders
- Fetal anomalies
- Fetal hydrops
- Retinal disorders
- Hypertrophic cardiomyopathy
- Diabetes with additional phenotypes suggestive of a monogenic aetiology
- Monogenic diabetes
- Likely inborn error of metabolism
- Arthrogryposis
- Optic neuropathy
- Dystonia, chorea or related movement disorder, childhood onset
- Monogenic hearing loss
- Hereditary neuropathy
- Familial diabetes
- Congenital myopathy
- Multi-organ autoimmune diabetes
- Hereditary neuropathy or pain disorder
- DDG2P
- Mitochondrial disorders
History Filter Activity
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