Gastrointestinal neuromuscular 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

Ellen McDonagh (Genomics England Curator)

Green List (high evidence)

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.

Neil shah (GOSH)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Variants in this GENE are reported as part of current diagnostic practice

History Filter Activity

26 Oct 2016, Gel status: 4

panel promoted to version 1

Ellen McDonagh (Genomics England Curator)

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.

19 Oct 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

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

31 Aug 2016, Gel status: 3

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for TYMP were set to Mitochondrial DNA depletion syndrome 1 (MNGIE type) 603041

31 Aug 2016, Gel status: 3

Added New Source

Sarah Leigh (Genomics England Curator)

TYMP was added to Neonatal and familial gastrointestinal neuromuscular disorderspanel. Source: UKGTN

31 Aug 2016, Gel status: 2

Added New Source

Sarah Leigh (Genomics England Curator)

TYMP was added to Neonatal and familial gastrointestinal neuromuscular disorderspanel. Source: Radboud University Medical Center, Nijmegen

31 Aug 2016, Gel status: 0

Created

Sarah Leigh (Genomics England Curator)

TYMP was created by sleigh

31 Aug 2016, Gel status: 1

Added New Source

Sarah Leigh (Genomics England Curator)

TYMP was added to Neonatal and familial gastrointestinal neuromuscular disorderspanel. Sources: Illumina TruGenome Clinical Sequencing Services