Inherited white matter disorders
Gene: TYMPComment on list classification: Gene rated green and diagnostic-grade by expert reviewer, and more than 3 unrelated cases from different ethnicities, and different variants reported in OMIM. On the Minimum recommended gene list for broad spectrum genetic testing for single-nucleotide variants associated with leukodystrophies and genetic leukoencephalopathies reported in PMID: 25655951 for Mitochondrial DNA depletion syndrome 1. Green gene in the Mitochondrial panel version 1.10.Created: 25 Aug 2016, 2:31 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
General Leukodystrophy & Mitochondrial Leukoencephalopathy
Publications
Variants in this GENE are reported as part of current diagnostic practice
6th Oct 2016: Panel promoted to version 1 after expert review and input, further curation and clinical input.
This gene has been classified as Green List (High Evidence).
Phenotypes for TYMP were set to Mitochondrial Leukoencephalopathy;Mitochondrial DNA depletion syndrome 1 (MNGIE type)
Publications for TYMP were set to 25655951
This gene has been classified as Green List (High Evidence).
TYMP was added to Inherited white matter disorderspanel. Sources: Expert list
TYMP was created by [email protected]