Acute rhabdomyolysis
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
Arina Puzriakova (Genomics England Curator)
After NHS Genomic Medicine Service consideration, the rating of this gene has been left as Red but may be subject to review in the future.Created: 16 Feb 2022, 2:32 p.m. | Last Modified: 16 Feb 2022, 2:32 p.m.
Panel Version: 0.6
TYMP is rated Green on the GMS 'Rhabdomyolysis and metabolic muscle disorders panel' (version 1.34) panel. Metabolic muscle disorder that can include skeletal muscle weakness and exercise intolerance but can not find clear evidence of acute rhabdomyolysis in literature.Created: 19 Jan 2022, 5:51 p.m. | Last Modified: 19 Jan 2022, 5:51 p.m.
Panel Version: 0.3
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Mitochondrial DNA depletion syndrome 1 (MNGIE type), OMIM:603041
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- NHS GMS
- Expert Review Red
- Phenotypes
-
- Mitochondrial DNA depletion syndrome 1 (MNGIE type), OMIM:603041
- OMIM
- 131222
- Clinvar variants
- Variants in TYMP
- Penetrance
- None
- Publications
- Panels with this gene
-
- Mitochondrial DNA maintenance disorder
- White matter disorders and cerebral calcification - narrow panel
- Acute rhabdomyolysis
- Adult onset leukodystrophy
- Undiagnosed metabolic disorders
- Gastrointestinal neuromuscular disorders
- Childhood onset dystonia, chorea or related movement disorder
- Mitochondrial disorders
- Inherited white matter disorders
- Rhabdomyolysis and metabolic muscle disorders
- Hereditary neuropathy or pain disorder
- Likely inborn error of metabolism
- Possible mitochondrial disorder - nuclear genes
- Mitochondrial neurogastrointestinal encephalopathy
- Paediatric pseudo-obstruction syndrome
- Hereditary neuropathy
History Filter Activity
19 Jan 2022, Gel status: 1
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Arina Puzriakova (Genomics England Curator)gene: TYMP was added gene: TYMP was added to Acute rhabdomyolysis. Sources: Expert Review Red,NHS GMS Mode of inheritance for gene: TYMP was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TYMP were set to 24199812 Phenotypes for gene: TYMP were set to Mitochondrial DNA depletion syndrome 1 (MNGIE type), OMIM:603041