White matter disorders - adult onset

Gene: TYMP

Green List (high evidence)

TYMP (thymidine phosphorylase)
EnsemblGeneIds (GRCh38): ENSG00000025708
EnsemblGeneIds (GRCh37): ENSG00000025708
OMIM: 131222, Gene2Phenotype
TYMP is in 14 panels

2 reviews

David Lynch (UCL Institute of Neurology)

Green List (high evidence)

Louise Daugherty (Genomics England Curator)

Green List (high evidence)

Comment on list classification: Appropriate phenotype, sufficient cases, and external review all support gene-disease association.
Created: 13 Sep 2019, 4:22 p.m. | Last Modified: 13 Sep 2019, 4:22 p.m.
Panel Version: 0.21
New green gene recommended by external expert David Lynch UCL Institute of Neurology
Sources: Expert list
Created: 13 Sep 2019, 4:05 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Mitochondrial DNA depletion syndrome 1 (MNGIE type), 603041; Leukoencephalopathy

Publications

History Filter Activity

13 Sep 2019, Gel status: 3

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

Gene: tymp has been classified as Green List (High Evidence).

13 Sep 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Louise Daugherty (Genomics England Curator)

gene: TYMP was added gene: TYMP was added to White matter disorders - adult onset. Sources: Expert list Mode of inheritance for gene: TYMP was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TYMP were set to 9924029; 12177387; 14757860; 16178026 Phenotypes for gene: TYMP were set to Mitochondrial DNA depletion syndrome 1 (MNGIE type), 603041; Leukoencephalopathy Review for gene: TYMP was set to GREEN