Rhabdomyolysis and metabolic muscle disorders

Gene: TYMP

Green List (high evidence)

TYMP (thymidine phosphorylase)
EnsemblGeneIds (GRCh38): ENSG00000025708
EnsemblGeneIds (GRCh37): ENSG00000025708
OMIM: 131222, Gene2Phenotype
TYMP is in 15 panels

2 reviews

Zornitza Stark (Australian Genomics)

Red List (low evidence)

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

Sarah Leigh (Genomics England Curator)

Comment when marking as ready: Associated with phenotype in OMIM, not in G2P / DD. At least 14 variants reported
Created: 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

History Filter Activity

4 Jan 2017, Gel status: 4

panel promoted to version 1

Sarah Leigh (Genomics England Curator)

Panel promoted to V1 4th January 2017

5 Dec 2016, Gel status: 4

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

1 Dec 2016, Gel status: 4

Added New Source

Sarah Leigh (Genomics England Curator)

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

1 Dec 2016, Gel status: 0

Created

Sarah Leigh (Genomics England Curator)

TYMP was created by sleigh