Gastrointestinal neuromuscular disease
Gene: TYMPEnsemblGeneIds (GRCh38): ENSG00000025708
EnsemblGeneIds (GRCh37): ENSG00000025708
OMIM: 131222, Gene2Phenotype
TYMP is in 13 panels
3 reviews
Manny Jacobs (Victorian Clinical Genetics Services)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
# 603041 MITOCHONDRIAL DNA DEPLETION SYNDROME 1 (MNGIE TYPE)
Publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Mitochondrial DNA depletion syndrome-1 (MTDPS1) is an autosomal recessive progressive multisystem disorder clinically characterized by onset between the second and fifth decades of life of ptosis, progressive external ophthalmoplegia (PEO), gastrointestinal dysmotility (often pseudoobstruction), cachexia, diffuse leukoencephalopathy, peripheral neuropathy, and mitochondrial dysfunction. Mitochondrial DNA abnormalities can include depletion, deletion, and point mutations.
More than 10 families reported.Created: 30 Jul 2021, 8:13 a.m. | Last Modified: 30 Jul 2021, 8:13 a.m.
Panel Version: 0.49
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Mitochondrial DNA depletion syndrome 1 (MNGIE type), MIM# 603041
Publications
Bryony Thompson (Royal Melbourne Hospital)
21 cases had gastrointestinal dysmotility likely caused by visceral mitochondrial myopathy as a prominent feature of the condition. There was no myogenic only abnormal findings in the skeletal muscle biopsies from the cases, but there were mixed neurogenic and myogenic in ~40% of cases.
Sources: Expert listCreated: 12 Feb 2020, 9:59 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Mitochondrial DNA depletion syndrome 1 (MNGIE type) MIM#603041
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Expert Review Green
- Expert list
- Royal Melbourne Hospital
- Phenotypes
-
- Mitochondrial DNA depletion syndrome 1 (MNGIE type), MIM# 603041
- MNGIE: ptosis, ophthalmoplegia & ophthalmoparesis, hearing loss, neuropathy
- OMIM
- 131222
- Clinvar variants
- Variants in TYMP
- Penetrance
- None
- Publications
- Panels with this gene
-
- Rhabdomyolysis and Metabolic Myopathy
- Mackenzie's Mission_Reproductive Carrier Screening
- Leukodystrophy - adult onset
- Leukodystrophy - paediatric
- Additional findings_Paediatric
- Prepair 1000+
- Hereditary Neuropathy - complex
- Gastrointestinal neuromuscular disease
- Mendeliome
- BabyScreen+ newborn screening
- Mitochondrial disease
- Prepair 500+
- Congenital ophthalmoplegia
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: tymp has been classified as Green List (High Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: TYMP were changed from MNGIE: ptosis, ophthalmoplegia & ophthalmoparesis, hearing loss, neuropathy to Mitochondrial DNA depletion syndrome 1 (MNGIE type), MIM# 603041; MNGIE: ptosis, ophthalmoplegia & ophthalmoparesis, hearing loss, neuropathy
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: TYMP were set to
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)gene: TYMP was added gene: TYMP was added to Visceral Myopathy_RMH. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: TYMP was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TYMP were set to MNGIE: ptosis, ophthalmoplegia & ophthalmoparesis, hearing loss, neuropathy