Cardiomyopathies - including childhood onsetGene: SLC30A5
Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). This gene is not associated with a phenotype in OMIM or Gene2Phenotype. There is currently not enough evidence to support a gene-disease association. This gene has been given an Amber rating.
Created: 15 Jun 2021, 3:31 p.m. | Last Modified: 15 Jun 2021, 3:31 p.m.
Panel Version: 1.45
Four affected children from two unrelated families with cardiomyopathy, hydrops fetalis, or cystic hygroma that all deceased perinatally. 2 different homozygous PTCs variants found. Knockout of SLC30A5 in mouse models showed reduced body growth and reduced bone density. About 60% of the mice died due to bradyarrhythmia.
Created: 12 Jun 2021, 2:33 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Perinatal lethal cardiomyopathy
Gene: slc30a5 has been classified as Amber List (Moderate Evidence).
Tag watchlist tag was added to gene: SLC30A5.
Phenotypes for gene: SLC30A5 were changed from Perinatal lethal cardiomyopathy to Perinatal lethal cardiomyopathy; cardiomyopathy, MONDO:0004994
gene: SLC30A5 was added gene: SLC30A5 was added to Cardiomyopathies - including childhood onset. Sources: Literature 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 Review for gene: SLC30A5 was set to AMBER