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| Cardiomyopathy_Paediatric v1.51 | QRSL1 | Sarah Milton Classified gene: QRSL1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cardiomyopathy_Paediatric v1.51 | QRSL1 | Sarah Milton Gene: qrsl1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cardiomyopathy_Paediatric v1.50 | QRSL1 |
Sarah Milton gene: QRSL1 was added gene: QRSL1 was added to Cardiomyopathy_Paediatric. Sources: Literature Mode of inheritance for gene: QRSL1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: QRSL1 were set to 35894854; 30283131; 29440775 Phenotypes for gene: QRSL1 were set to Combined oxidative phosphorylation deficiency 40, MIM#618835 Review for gene: QRSL1 was set to GREEN Added comment: PMID 29440775, PMID 30283131 and PMID 35894854 report a number of individuals with biallelic loss-of-function QRSL1 variants resulting in combined oxidative phosphorylation deficiency 40, characterised by a multisystem mitochondrial disease featuring early‑onset (prenatal/neonatal) hypertrophic cardiomyopathy. Sources: Literature |
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