Mitochondrial DNA maintenance disorder
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
3 reviews
Ivone Leong (Genomics England Curator)
Initial gene list and info collated by Carl Fratter (Oxford University Hospitals NHS Trust) January 2019 on behalf of the GMS Mitochondrial specialist test group. Gene Symbol submitted: TYMP; Suggested intial gene rating: Green; Information provided: Mode of inheritance and phenotype.Created: 1 Feb 2019, 4:28 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Mitochondrial DNA depletion syndrome 1 (MNGIE type), 603041
Carl Fratter (Oxford University Hospitals NHS Trust)
Variants in this GENE are reported as part of current diagnostic practice
Shamima Rahman (UCL Institute of Child Health)
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- NHS GMS
- Expert Review Green
- Phenotypes
-
- Mitochondrial DNA depletion syndrome 1 (MNGIE type), 603041
- OMIM
- 131222
- Clinvar variants
- Variants in TYMP
- Penetrance
- None
- Panels with this gene
-
- Mitochondrial DNA maintenance disorder
- Acute rhabdomyolysis
- Adult onset leukodystrophy
- Hereditary neuropathy or pain disorder
- Undiagnosed metabolic disorders
- Gastrointestinal neuromuscular disorders
- Childhood onset dystonia, chorea or related movement disorder
- Inherited white matter disorders
- Mitochondrial disorders
- Rhabdomyolysis and metabolic muscle disorders
- Likely inborn error of metabolism
- Mitochondrial neurogastrointestinal encephalopathy
- Paediatric pseudo-obstruction syndrome
- Hereditary neuropathy
- White matter disorders and cerebral calcification - narrow panel
- Possible mitochondrial disorder - nuclear genes
History Filter Activity
1 Feb 2019, Gel status: 4
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Ivone Leong (Genomics England Curator)gene: TYMP was added gene: TYMP was added to Mitochondrial DNA maintenance disorder. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: TYMP was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TYMP were set to Mitochondrial DNA depletion syndrome 1 (MNGIE type), 603041