Rhabdomyolysis and metabolic muscle disorders
Gene: TYMPAlthough rhabdomyolysis is not a prominent feature, TSMP was included on the basis that it causes a metabolic myopathy which is within the scope of this panel and therefore the Green rating will be maintained at this time.Created: 17 Jan 2022, 2:45 p.m. | Last Modified: 17 Jan 2022, 2:45 p.m.
Panel Version: 1.75
Cannot find any evidence that rhabdomyolysis is a feature of the condition. One case reported with exercise intolerance as a presenting feature of the condition.Created: 7 Oct 2020, 11:02 p.m. | Last Modified: 7 Oct 2020, 11:02 p.m.
Panel Version: 1.42
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Mitochondrial DNA depletion syndrome 1 (MNGIE type) MIM#603041
Publications
Comment when marking as ready: Associated with phenotype in OMIM, not in G2P / DD. At least 14 variants reportedCreated: 5 Dec 2016, 3:54 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria) 612073
Publications
Phenotypes for gene: TYMP were changed from Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria) 612073 to Mitochondrial DNA depletion syndrome 1 (MNGIE type), OMIM:603041
Panel promoted to V1 4th January 2017
This gene has been classified as Green List (High Evidence).
TYMP was added to Rhabdomyolysis and metabolic muscle disorderspanel. Sources: Emory Genetics Laboratory,Illumina TruGenome Clinical Sequencing Services,Literature,Radboud University Medical Center, Nijmegen,UKGTN
TYMP was created by sleigh