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Mitochondrial neurogastrointestinal encephalopathy
Gene: TYMP
TYMP (thymidine phosphorylase)
EnsemblGeneIds (GRCh38): ENSG00000025708
EnsemblGeneIds (GRCh37): ENSG00000025708
OMIM: 131222, Gene2Phenotype
TYMP is in 16 panels
EnsemblGeneIds (GRCh38): ENSG00000025708
EnsemblGeneIds (GRCh37): ENSG00000025708
OMIM: 131222, Gene2Phenotype
TYMP is in 16 panels
1 review
Achchuthan Shanmugasundram (Genomics England Curator)
Comment on phenotypes: This gene has been associated with relevant phenotypes in OMIM (MIM #603041) and the OMIM record was last accessed on 20 December 2025.Created: 20 Dec 2025, 8:38 p.m. | Last Modified: 20 Dec 2025, 8:38 p.m.
Panel Version: 1.2
TYMP has been added to the panel for R394 Mitochondrial neurogastrointestinal encephalopathy with a green rating as agreed with the NHS Genomic Medicine Service.Created: 30 Jun 2023, 2:30 p.m. | Last Modified: 30 Jun 2023, 2:30 p.m.
Panel Version: 0.1
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- NHS GMS
- Phenotypes
-
- Mitochondrial DNA depletion syndrome 1 (MNGIE type), OMIM:603041
- mitochondrial DNA depletion syndrome 1, MONDO:0011283
- OMIM
- 131222
- Clinvar variants
- Variants in TYMP
- Penetrance
- None
- Panels with this gene
-
- Childhood onset dystonia, chorea or related movement disorder
- Rhabdomyolysis and metabolic muscle disorders
- White matter disorders and cerebral calcification - narrow panel
- Hereditary neuropathy
- Mitochondrial DNA maintenance disorder
- Mitochondrial disorders
- Gastrointestinal neuromuscular disorders
- Adult onset leukodystrophy
- Inherited white matter disorders
- Paediatric pseudo-obstruction syndrome
- Likely inborn error of metabolism
- Acute rhabdomyolysis
- Possible mitochondrial disorder - nuclear genes
- Mitochondrial neurogastrointestinal encephalopathy
- Hereditary neuropathy or pain disorder
- Undiagnosed metabolic disorders
History Filter Activity
20 Dec 2025, Gel status: 3
Set Phenotypes
Achchuthan Shanmugasundram (Genomics England Curator)Phenotypes for gene: TYMP were changed from to Mitochondrial DNA depletion syndrome 1 (MNGIE type), OMIM:603041; mitochondrial DNA depletion syndrome 1, MONDO:0011283
30 Jun 2023, Gel status: 3
Created, Added New Source, Set mode of inheritance
Achchuthan Shanmugasundram (Genomics England Curator)gene: TYMP was added gene: TYMP was added to Mitochondrial neurogastrointestinal encephalopathy. Sources: NHS GMS,Expert Review Green Mode of inheritance for gene: TYMP was set to BIALLELIC, autosomal or pseudoautosomal