Leukodystrophy - paediatric
Gene: TYMP
TYMP (thymidine phosphorylase)
EnsemblGeneIds (GRCh38): ENSG00000025708
EnsemblGeneIds (GRCh37): ENSG00000025708
OMIM: 131222, Gene2Phenotype
TYMP is in 13 panels
EnsemblGeneIds (GRCh38): ENSG00000025708
EnsemblGeneIds (GRCh37): ENSG00000025708
OMIM: 131222, Gene2Phenotype
TYMP is in 13 panels
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Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Royal Melbourne Hospital
- Expert Review Green
- Phenotypes
-
- Mitochondrial DNA depletion syndrome 1 (MNGIE type)
- Mitochondrial Leukoencephalopathy
- OMIM
- 131222
- Clinvar variants
- Variants in TYMP
- Penetrance
- None
- 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
30 Dec 2019, Gel status: 3
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)gene: TYMP was added gene: TYMP was added to Leukodystrophy - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital 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); Mitochondrial Leukoencephalopathy