TYMP:Ensemblv115

thymidine phosphorylase
OMIM: 131222, ClinGen, DECIPHER

8 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 8 panels
Green TYMP in Leukodystrophy - paediatric Level 2: Neurology and neurodevelopmental disorders Version 1.0	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Mitochondrial DNA depletion syndrome 1 (MNGIE type) Mitochondrial Leukoencephalopathy
Green TYMP in Leukodystrophy - adult onset Level 2: Neurology and neurodevelopmental disorders Version 1.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Mitochondrial DNA depletion syndrome 1 (MNGIE type), MIM# 603041
Green TYMP in Hereditary Neuropathy - complex Level 2: Neurology and neurodevelopmental disorders Version 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Royal Melbourne Hospital Expert Review Green Phenotypes Mitochondrial DNA depletion syndrome 1 (MNGIE type) HMSN
Green TYMP in Gastrointestinal neuromuscular disease Level 2: Gastroenterological disorders Version 2.0	3 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Royal Melbourne Hospital Expert list Expert Review Green Expert Review Green Phenotypes Mitochondrial DNA depletion syndrome 1 (MNGIE type), MIM# 603041 MNGIE: ptosis, ophthalmoplegia & ophthalmoparesis, hearing loss, neuropathy
Green TYMP in Mackenzie's Mission_Reproductive Carrier Screening Level 2: Screening Version 1.0	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Mackenzie's Mission Expert Review Green Phenotypes Mitochondrial DNA depletion syndrome 1 (MNGIE type), 603041 (3)
Green TYMP in Congenital ophthalmoplegia Level 2: Ophthalmological disorders Version 2.0	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Literature Expert Review Green Phenotypes Mitochondrial DNA depletion syndrome 1 (MNGIE type) 603041
Green TYMP in Prepair 1000+ Level 2: Screening Version 3.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Mackenzie's Mission Expert Review Green Phenotypes Mitochondrial DNA depletion syndrome 1 (MNGIE type), MIM#603041
Green TYMP in Prepair 500+ Level 2: Screening Version 3.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Mackenzie's Mission Expert Review Green Phenotypes Mitochondrial DNA depletion syndrome 1 (MNGIE type), MIM#603041