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| Cardiomyopathy_Paediatric v1.45 | FBXL4 | Sarah Milton Classified gene: FBXL4 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cardiomyopathy_Paediatric v1.45 | FBXL4 | Sarah Milton Gene: fbxl4 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cardiomyopathy_Paediatric v1.44 | FBXL4 |
Sarah Milton gene: FBXL4 was added gene: FBXL4 was added to Cardiomyopathy_Paediatric. Sources: Literature Mode of inheritance for gene: FBXL4 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FBXL4 were set to 28940506 Phenotypes for gene: FBXL4 were set to Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type), MIM#615471 Review for gene: FBXL4 was set to GREEN Added comment: PMID 28940506 reports 87 individuals from 72 unrelated families with biallelic loss‑of‑function FBXL4 variants causing mitochondrial DNA depletion syndrome 13. An early onset multisystem disease characterised by lactic acidosis, developmental delay, hypotonia and hypertrophic cardiomyopathy in ~20 % of cases. Sources: Literature |
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