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| Paediatric pseudo-obstruction syndrome v2.8 | MT-TL1 | William Macken reviewed gene: MT-TL1: Rating: GREEN; Mode of pathogenicity: None; Publications: (PMID: 41626228, 18226864, 15029099), 16547358); Phenotypes: Intestinal pseudo-obstruction HP:0004389; Mode of inheritance: MITOCHONDRIAL; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| 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 |
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