Paediatric pseudo-obstruction syndrome
Gene: TYMP
The rating of this gene has been updated to Green and the mode of inheritance set to 'BIALLELIC, autosomal or pseudoautosomal' following NHS Genomic Medicine Service approval.Created: 1 Feb 2023, 7:44 a.m. | Last Modified: 1 Feb 2023, 7:44 a.m.
Panel Version: 0.216
Comment on list classification: This gene should be rated GREEN as this gene has been associated with mitochondrial DNA depletion syndrome 1 (MNGIE type) (MIM #603041) from multiple unrelated cases from several different studies.
This disorder is characterised by ptosis, progressive external ophthalmoplegia (PEO), gastrointestinal dysmotility (often pseudoobstruction), cachexia, diffuse leukoencephalopathy, peripheral neuropathy, and mitochondrial dysfunction.
A recent study in PMID:33825174 reports five novel variants from TYMP gene in six Iranian patients for whom the onset of symptoms varied between 13 to 20 years of age.
This gene has been associated with phenotypes in OMIM, but not in G2P.Created: 2 Jan 2023, 9:49 p.m. | Last Modified: 2 Jan 2023, 9:49 p.m.
Panel Version: 0.163
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Mitochondrial DNA depletion syndrome 1 (MNGIE type), OMIM:603041
Publications
Review submitted on behalf of Dr. Anna Rybak and Dr. Osvaldo Borreli, Great Ormond Street Hospital for Children NHS Foundation Trust. Gene group: Mitochondrial depletion disorders (MNGIE, MELAS, myopathy, other). Protein function: encodes thymidine phosphorylase.Created: 20 Dec 2022, 3:32 p.m. | Last Modified: 20 Dec 2022, 3:32 p.m.
Panel Version: 0.2
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Accumulation of thymidine in mitochondrial DNA leads to impaired function. Multi-system mitochondrial disease with progressive gastrointestinal dysmotility
Publications
Phenotypes for gene: TYMP were changed from to Mitochondrial DNA depletion syndrome 1 (MNGIE type), OMIM:603041
Publications for gene: TYMP were set to
Mode of inheritance for gene: TYMP was changed from to BIALLELIC, autosomal or pseudoautosomal
Gene: tymp has been classified as Green List (High Evidence).
gene: TYMP was added gene: TYMP was added to Paediatric pseudo-obstruction syndrome. Sources: Expert list Mode of inheritance for gene: TYMP was set to