Likely inborn error of metabolism - targeted testing not possible
Gene: TYMP
Variants in this GENE are reported as part of current diagnostic practice
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Rhabdomyolysis and metabolic muscle disorders
Publications
Source NHS GMS was added to TYMP. Source London North GLH was added to TYMP.
Ellen McDonagh: Comment on mode of pathogenici
Added phenotypes Disorders of mitochondrial DNA maintenance and integrity; Mitochondrial Neurogastrointestinal Encephalopathy Disease; Mitochondrial DNA depletion syndrome 1 (MNGIE type), 603041 for gene: TYMP
gene: TYMP was added gene: TYMP was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: TYMP was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TYMP were set to 27604308; 24816252 Phenotypes for gene: TYMP were set to Thymidine phosphorylase deficiency (Disorders of pyrimidine metabolism); Mitochondrial Neurogastrointestinal Encephalopathy Disease; Disorders of mitochondrial DNA maintenance and integrity; Required for mtDNA maintenance (Mitochondrial respiratory chain disorders (caused by nuclear variants only)); Mitochondrial DNA depletion syndrome 1 (MNGIE type), 603041