White matter disorders and cerebral calcification - narrow panel
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
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Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Phenotypes
-
- Mitochondrial Leukoencephalopathy
- Mitochondrial DNA depletion syndrome 1 (MNGIE type)
- OMIM
- 131222
- Clinvar variants
- Variants in TYMP
- Penetrance
- None
- Publications
- Panels with this gene
-
- Acute rhabdomyolysis
- Paediatric pseudo-obstruction syndrome
- Likely inborn error of metabolism
- Undiagnosed metabolic disorders
- Mitochondrial neurogastrointestinal encephalopathy
- Gastrointestinal neuromuscular disorders
- White matter disorders and cerebral calcification - narrow panel
- Rhabdomyolysis and metabolic muscle disorders
- Childhood onset dystonia, chorea or related movement disorder
- Inherited white matter disorders
- Adult onset leukodystrophy
- Possible mitochondrial disorder - nuclear genes
- Hereditary neuropathy
- Mitochondrial DNA maintenance disorder
- Mitochondrial disorders
- Hereditary neuropathy or pain disorder
History Filter Activity
8 Jan 2019, Gel status: 4
Panel promoted to version 1.0
Louise Daugherty (Genomics England Curator)Checked against super panel made up of the panel constituents. Ready to promote to version 1
19 Dec 2018, Gel status: 4
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Ellen McDonagh (Genomics England Curator)gene: TYMP was added gene: TYMP was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert Review Green Mode of inheritance for gene: TYMP was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TYMP were set to 25655951 Phenotypes for gene: TYMP were set to Mitochondrial Leukoencephalopathy; Mitochondrial DNA depletion syndrome 1 (MNGIE type)