Congenital ophthalmoplegia

Gene: TYMP

Green List (high evidence)

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

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Mitochondrial DNA depletion syndrome 1 (MNGIE type) 603041

Shannon LeBlanc (Victorian Clinical Genetics Services)

Ophthalmoplegia is a common feature.

age of onset range 5 months to 35 years); however, the majority of patients reported the first symptoms before the age of 12 years.

Garone 2011: 92 patients with biallelic variants
Sources: Literature
Created: 16 Nov 2020, 10:33 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Mitochondrial DNA depletion syndrome 1 (MNGIE type) 603041

Publications

History Filter Activity

16 Nov 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

16 Nov 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

16 Nov 2020, Gel status: 0

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

Shannon LeBlanc (Victorian Clinical Genetics Services)

gene: TYMP was added gene: TYMP was added to Congenital ophthalmoplegia. Sources: Literature Mode of inheritance for gene: TYMP was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TYMP were set to PMID: 21933806; 30775048 Phenotypes for gene: TYMP were set to Mitochondrial DNA depletion syndrome 1 (MNGIE type) 603041