Genomics England

TYMP

thymidine phosphorylase

Panel	Mode of inheritance	Details
Filter panels10 panels
Green in Adult onset leukodystrophy R-numbers: R62 Signed-off version 5.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Mitochondrial DNA depletion syndrome 1 (MNGIE type), 603041, Leukoencephalopathy
Green in Hereditary neuropathy or pain disorder R-numbers: R78 Signed-off version 5.16	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Mitochondrial DNA depletion syndrome 1 (MNGIE type)
Green in Likely inborn error of metabolism Component of the following Super Panels: - Childhood onset leukodystrophy - Hypotonic infant - Paediatric disorders - Unexplained death in infancy and sudden unexplained death in childhood R-numbers: R98 Signed-off version 6.14	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Thymidine phosphorylase deficiency (Disorders of pyrimidine metabolism), Required for mtDNA maintenance (Mitochondrial respiratory chain disorders (caused by nuclear variants only)), Disorders of mitochondrial DNA maintenance and integrity, Mitochondrial Neurogastrointestinal Encephalopathy Disease, Mitochondrial DNA depletion syndrome 1 (MNGIE type), 603041
Green in Mitochondrial disorders Component of the following Super Panels: - Childhood onset leukodystrophy Signed-off version 7.4	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Disorders of mitochondrial DNA maintenance and integrity, Mitochondrial DNA depletion syndrome 1 (MNGIE type), 603041, Mitochondrial Neurogastrointestinal Encephalopathy Disease
Green in Mitochondrial DNA maintenance disorder R-numbers: R352 Signed-off version 3.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Mitochondrial DNA depletion syndrome 1 (MNGIE type), 603041
Green in Mitochondrial neurogastrointestinal encephalopathy R-numbers: R394 Signed-off version 1.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes
Green in Paediatric pseudo-obstruction syndrome R-numbers: R438 Signed-off version 1.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Mitochondrial DNA depletion syndrome 1 (MNGIE type), OMIM:603041
Green in Possible mitochondrial disorder - nuclear genes R-numbers: R63 Signed-off version 3.105	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Mitochondrial DNA depletion syndrome 1 (MNGIE type), 603041
Green in Rhabdomyolysis and metabolic muscle disorders Component of the following Super Panels: - Hypotonic infant - Other rare neuromuscular disorders Signed-off version 5.1	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Mitochondrial DNA depletion syndrome 1 (MNGIE type), OMIM:603041
Green in White matter disorders and cerebral calcification - narrow panel Component of the following Super Panels: - Childhood onset leukodystrophy Signed-off version 5.3	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Mitochondrial Leukoencephalopathy, Mitochondrial DNA depletion syndrome 1 (MNGIE type)