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Fetal hydrops v1.64 | SLC30A5 | Irina Adamena changed review comment from: Four affected children with homozygous loss of function variants in SLC30A5 gene with cardiomyopathy, hydrops fetalis, or cystic hygroma.; to: Four affected children with homozygous loss of function variants in SLC30A5 gene with cardiomyopathy, hydrops fetalis, or cystic hygroma (PMID: 33547425). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal hydrops v1.64 | SLC30A5 | Irina Adamena reviewed gene: SLC30A5: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 33547425; Phenotypes: hydrops fetalis, cardiomyopathy, cystic hygroma; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal hydrops v1.29 | SLC30A5 | Ivone Leong Entity copied from Cardiomyopathies - including childhood onset v1.45 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal hydrops v1.29 | SLC30A5 |
Ivone Leong gene: SLC30A5 was added gene: SLC30A5 was added to Fetal hydrops. Sources: Literature,Expert Review Amber watchlist tags were added to gene: SLC30A5. Mode of inheritance for gene: SLC30A5 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC30A5 were set to 33547425; 12095919 Phenotypes for gene: SLC30A5 were set to Perinatal lethal cardiomyopathy; cardiomyopathy, MONDO:0004994 |