Activity
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5 actions
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| Adult onset leukodystrophy v0.21 | TYMP | Louise Daugherty Classified gene: TYMP as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset leukodystrophy v0.21 | TYMP | Louise Daugherty Added comment: Comment on list classification: Appropriate phenotype, sufficient cases, and external review all support gene-disease association. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset leukodystrophy v0.21 | TYMP | Louise Daugherty Gene: tymp has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset leukodystrophy v0.19 | TYMP | David Lynch reviewed gene: TYMP: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset leukodystrophy v0.18 | TYMP |
Louise Daugherty gene: TYMP was added gene: TYMP was added to White matter disorders - adult onset. Sources: Expert list Mode of inheritance for gene: TYMP was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TYMP were set to 9924029; 12177387; 14757860; 16178026 Phenotypes for gene: TYMP were set to Mitochondrial DNA depletion syndrome 1 (MNGIE type), 603041; Leukoencephalopathy Review for gene: TYMP was set to GREEN Added comment: New green gene recommended by external expert David Lynch UCL Institute of Neurology Sources: Expert list |
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