Activity

Filter

Cancel
Date Panel Item Activity
4 actions
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