| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Cardiomyopathy_Paediatric v1.61 | DST | Rylee Peters Marked gene: DST as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cardiomyopathy_Paediatric v1.61 | DST | Rylee Peters Gene: dst has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cardiomyopathy_Paediatric v1.61 | DST | Rylee Peters Classified gene: DST as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cardiomyopathy_Paediatric v1.61 | DST | Rylee Peters Gene: dst has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cardiomyopathy_Paediatric v1.60 | DST |
Rylee Peters gene: DST was added gene: DST was added to Cardiomyopathy_Paediatric. Sources: Literature Mode of inheritance for gene: DST was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DST were set to 40497796 Phenotypes for gene: DST were set to Congenital myopathy 29 with contractures, MIM#621510 Review for gene: DST was set to GREEN Added comment: PMID: 40497796 reports several unrelated families with biallelic loss‑of‑function DST‑b variants presenting with severe congenital myopathy, arthrogryposis, neonatal hypotonia and cardiomyopathy (DCM was identified in 9/14 individuals). Most required respiratory support in infancy, seven died before age three from heart failure. Sources: Literature |
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