Hereditary Neuropathy - complex
Gene: TYMP

TYMP (thymidine phosphorylase)
EnsemblGeneIds (GRCh38): ENSG00000025708
EnsemblGeneIds (GRCh37): ENSG00000025708
OMIM: 131222, Gene2Phenotype
TYMP is in 13 panels

1 review

Sangavi Sivagnanasundram (Melbourne Health)

I don't know

PMID: 20301358 - Sensorimotor neuropathy is a feature in about 14% of diagnosed cases. Peripheral neuropathy is prominent in all MNGIE diagnosed cases.

GoF is the molecular pathogenesis of this condition.

PMID: 14757860
17yr individual with demylinating and axonal sensorimotor neuropathy.
Novel homozygous splice variant identified
Created: 4 Aug 2023, 5:35 a.m. | Last Modified: 4 Aug 2023, 5:35 a.m.

Panel Version: 0.215

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Mitochondrial DNA depletion syndrome 1 (MNGIE type) MIM#603041

Publications

Mode of pathogenicity
Other

Created: 4 Aug 2023, 5:35 a.m.
Last Modified: 4 Aug 2023, 5:35 a.m.
Panel version: 0.215

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Royal Melbourne Hospital

Phenotypes

Mitochondrial DNA depletion syndrome 1 (MNGIE type)
HMSN

OMIM

131222

Clinvar variants

Variants in TYMP

Penetrance

None

Panels with this gene

History Filter Activity

14 Aug 2023, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

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

13 Jan 2020, Gel status: 3

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

Bryony Thompson (Royal Melbourne Hospital)

gene: TYMP was added gene: TYMP was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: TYMP was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TYMP were set to Mitochondrial DNA depletion syndrome 1 (MNGIE type); HMSN

Hereditary Neuropathy - complex Gene: TYMP