| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Cardiomyopathy_Paediatric v1.59 | BOLA3 | Rylee Peters Marked gene: BOLA3 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cardiomyopathy_Paediatric v1.59 | BOLA3 | Rylee Peters Gene: bola3 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cardiomyopathy_Paediatric v1.59 | BOLA3 | Rylee Peters Classified gene: BOLA3 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cardiomyopathy_Paediatric v1.59 | BOLA3 | Rylee Peters Gene: bola3 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cardiomyopathy_Paediatric v1.58 | BOLA3 |
Rylee Peters gene: BOLA3 was added gene: BOLA3 was added to Cardiomyopathy_Paediatric. Sources: Literature Mode of inheritance for gene: BOLA3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: BOLA3 were set to 40273865 Phenotypes for gene: BOLA3 were set to Multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia, MIM#614299 Review for gene: BOLA3 was set to GREEN Added comment: PMID: 40273865 describes several unrelated families with biallelic BOLA3 variants causing early‑infantile multiple mitochondrial dysfunction syndrome 2 (MMDS2) that frequently includes hypertrophic cardiomyopathy. Sources: Literature |
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