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| Cardiomyopathy_Paediatric v1.40 | ALG3 | Sarah Milton Classified gene: ALG3 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cardiomyopathy_Paediatric v1.40 | ALG3 | Sarah Milton Gene: alg3 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cardiomyopathy_Paediatric v1.39 | ALG3 |
Sarah Milton gene: ALG3 was added gene: ALG3 was added to Cardiomyopathy_Paediatric. Sources: Literature Mode of inheritance for gene: ALG3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ALG3 were set to 38917675; 31067009 Phenotypes for gene: ALG3 were set to ALG3-congenital disorder of glycosylation, MONDO:0010998 Review for gene: ALG3 was set to AMBER Added comment: PMID 31067009 reports one ALG3-CDG patient with biallelic loss‑of‑function variants and hypertrophic cardiomyopathy. PMID 38917675 reports a patient with a homozygous ALG3 VUS and dilated cardiomyopathy. Sources: Literature |
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