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Gastrointestinal neuromuscular disease v0.51 | TYMP | Zornitza Stark Marked gene: TYMP as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Gastrointestinal neuromuscular disease v0.51 | TYMP | Zornitza Stark Gene: tymp has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Gastrointestinal neuromuscular disease v0.51 | TYMP | Zornitza Stark Phenotypes for gene: TYMP were changed from MNGIE: ptosis, ophthalmoplegia & ophthalmoparesis, hearing loss, neuropathy to Mitochondrial DNA depletion syndrome 1 (MNGIE type), MIM# 603041; MNGIE: ptosis, ophthalmoplegia & ophthalmoparesis, hearing loss, neuropathy | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Gastrointestinal neuromuscular disease v0.50 | TYMP | Zornitza Stark Publications for gene: TYMP were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Gastrointestinal neuromuscular disease v0.49 | TYMP | Zornitza Stark reviewed gene: TYMP: Rating: GREEN; Mode of pathogenicity: None; Publications: 9924029, 14757860; Phenotypes: Mitochondrial DNA depletion syndrome 1 (MNGIE type), MIM# 603041; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Gastrointestinal neuromuscular disease v0.0 | TYMP |
Bryony Thompson gene: TYMP was added gene: TYMP was added to Visceral Myopathy_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 MNGIE: ptosis, ophthalmoplegia & ophthalmoparesis, hearing loss, neuropathy |