Gastrointestinal neuromuscular disorders
Gene: TYMPEnsemblGeneIds (GRCh38): ENSG00000025708
EnsemblGeneIds (GRCh37): ENSG00000025708
OMIM: 131222, Gene2Phenotype
TYMP is in 16 panels
2 reviews
Ellen McDonagh (Genomics England Curator)
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)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- UKGTN
- Radboud University Medical Center, Nijmegen
- Illumina TruGenome Clinical Sequencing Services
- Phenotypes
-
- Mitochondrial DNA depletion syndrome 1 (MNGIE type) 603041
- OMIM
- 131222
- Clinvar variants
- Variants in TYMP
- Penetrance
- Complete
- Panels with this gene
-
- Undiagnosed metabolic disorders
- Mitochondrial DNA maintenance disorder
- Likely inborn error of metabolism
- Gastrointestinal neuromuscular disorders
- Inherited white matter disorders
- Paediatric pseudo-obstruction syndrome
- Adult onset leukodystrophy
- Mitochondrial disorders
- Rhabdomyolysis and metabolic muscle disorders
- Hereditary neuropathy or pain disorder
- Childhood onset dystonia, chorea or related movement disorder
- Possible mitochondrial disorder - nuclear genes
- Mitochondrial neurogastrointestinal encephalopathy
- Hereditary neuropathy
- Acute rhabdomyolysis
- White matter disorders and cerebral calcification - narrow panel
History Filter Activity
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.
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for TYMP were set to Mitochondrial DNA depletion syndrome 1 (MNGIE type) 603041
Added New Source
Sarah Leigh (Genomics England Curator)TYMP was added to Neonatal and familial gastrointestinal neuromuscular disorderspanel. Source: UKGTN
Added New Source
Sarah Leigh (Genomics England Curator)TYMP was added to Neonatal and familial gastrointestinal neuromuscular disorderspanel. Source: Radboud University Medical Center, Nijmegen
Created
Sarah Leigh (Genomics England Curator)TYMP was created by sleigh
Added New Source
Sarah Leigh (Genomics England Curator)TYMP was added to Neonatal and familial gastrointestinal neuromuscular disorderspanel. Sources: Illumina TruGenome Clinical Sequencing Services