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| Cardiomyopathy_Paediatric v1.21 | TRMT5 | Zornitza Stark Marked gene: TRMT5 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cardiomyopathy_Paediatric v1.21 | TRMT5 | Zornitza Stark Gene: trmt5 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cardiomyopathy_Paediatric v1.21 | TRMT5 | Zornitza Stark Classified gene: TRMT5 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cardiomyopathy_Paediatric v1.21 | TRMT5 | Zornitza Stark Gene: trmt5 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cardiomyopathy_Paediatric v1.20 | TRMT5 |
Zornitza Stark gene: TRMT5 was added gene: TRMT5 was added to Cardiomyopathy_Paediatric. Sources: Literature Mode of inheritance for gene: TRMT5 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TRMT5 were set to 26189817 Phenotypes for gene: TRMT5 were set to combined oxidative phosphorylation defect type 26, MONDO:0014684 Review for gene: TRMT5 was set to AMBER Added comment: PMID 26189817 reports 2 individuals from 2 families with biallelic TRMT5 variants presenting with childhood‑onset hypertrophic cardiomyopathy and multisystemic mitochondrial disease. Sources: Literature |
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