Gastrointestinal neuromuscular disorders
Gene: TYMP
Comment on list classification: Rated green and diagnostic by reviewer. Green gene on the mitochondrial panel version 1.14, white matter panel version 1.0 and Charcot-Marie tooth panel version 1.1. On OMIM, the clinical synopsis includes intestinal pseudo-obstruction. >10 cases, different variants , reported in OMIM in patients from different ethnicities.Created: 19 Oct 2016, 9:53 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Variants in this GENE are reported as part of current diagnostic practice
26th October 2016: panel revised after expert review and further curation of the analysis, with then internal clinical review. Ready for promotion to version 1.
This gene has been classified as Green List (High Evidence).
Phenotypes for TYMP were set to Mitochondrial DNA depletion syndrome 1 (MNGIE type) 603041
TYMP was added to Neonatal and familial gastrointestinal neuromuscular disorderspanel. Source: UKGTN
TYMP was added to Neonatal and familial gastrointestinal neuromuscular disorderspanel. Source: Radboud University Medical Center, Nijmegen
TYMP was created by sleigh
TYMP was added to Neonatal and familial gastrointestinal neuromuscular disorderspanel. Sources: Illumina TruGenome Clinical Sequencing Services