Activity
| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1 actions
|
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric pseudo-obstruction syndrome v2.7 | MT-TL1 |
Katherine Schon gene: MT-TL1 was added gene: MT-TL1 was added to Paediatric pseudo-obstruction syndrome. Sources: Literature Mode of inheritance for gene gene: MT-TL1 was set to MITOCHONDRIAL Publications for gene: MT-TL1 were set to PMID: 27453452; 42024134; 28458318 Phenotypes for gene: MT-TL1 were set to Intestinal pseudo-obstruction HP:0004389 Penetrance for gene: MT-TL1 were set to Incomplete Mode of pathogenicity for gene: MT-TL1 was set to Other Review for gene: MT-TL1 was set to GREEN Added comment: Intestinal pseudo-obstruction is observed as one of the phenotypes of the multi-system mitochondrial disease associated with the m.3243A>G pathogenic variant. Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||