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| Paediatric pseudo-obstruction syndrome v0.216 | TYMP | Achchuthan Shanmugasundram commented on gene: TYMP: The rating of this gene has been updated to Green and the mode of inheritance set to 'BIALLELIC, autosomal or pseudoautosomal' following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric pseudo-obstruction syndrome v0.167 | TYMP | Achchuthan Shanmugasundram Phenotypes for gene: TYMP were changed from to Mitochondrial DNA depletion syndrome 1 (MNGIE type), OMIM:603041 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric pseudo-obstruction syndrome v0.166 | TYMP | Achchuthan Shanmugasundram Publications for gene: TYMP were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric pseudo-obstruction syndrome v0.165 | TYMP | Achchuthan Shanmugasundram Mode of inheritance for gene: TYMP was changed from to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric pseudo-obstruction syndrome v0.164 | TYMP | Achchuthan Shanmugasundram Classified gene: TYMP as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric pseudo-obstruction syndrome v0.164 | TYMP | Achchuthan Shanmugasundram Gene: tymp has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric pseudo-obstruction syndrome v0.163 | TYMP | Achchuthan Shanmugasundram reviewed gene: TYMP: Rating: GREEN; Mode of pathogenicity: None; Publications: 31848803, 32898308, 33825174; Phenotypes: Mitochondrial DNA depletion syndrome 1 (MNGIE type), OMIM:603041; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric pseudo-obstruction syndrome v0.2 | TYMP | Eleanor Williams reviewed gene: TYMP: Rating: ; Mode of pathogenicity: ; Publications: 31848803; Phenotypes: Accumulation of thymidine in mitochondrial DNA leads to impaired function. Multi-system mitochondrial disease with progressive gastrointestinal dysmotility; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric pseudo-obstruction syndrome v0.1 | TYMP |
Eleanor Williams gene: TYMP was added gene: TYMP was added to Paediatric pseudo-obstruction syndrome. Sources: Expert list Mode of inheritance for gene: TYMP was set to |
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