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  3. SLC30A5
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Cardiomyopathy_Paediatric

Gene: SLC30A5

Amber List (moderate evidence)
SLC30A5 (solute carrier family 30 member 5)
EnsemblGeneIds (GRCh38): ENSG00000145740
EnsemblGeneIds (GRCh37): ENSG00000145740
OMIM: 607819, Gene2Phenotype
SLC30A5 is in 4 panels

1 review

Melanie Marty (Victorian Clinical Genetics Services)

I don't know

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.
Sources: Literature
Created: 7 Jun 2021, 6:10 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Perinatal lethal cardiomyopathy

Publications

Created: 7 Jun 2021, 6:10 a.m.

Panel version: 0.91

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • Perinatal lethal cardiomyopathy
OMIM
607819
Clinvar variants
Variants in SLC30A5
Penetrance
None
Publications
Panels with this gene

History Filter Activity

7 Jun 2021, Gel status: 2

Entity classified by Genomics England curator

Sue White (Victorian Clinical Genetics Services)

Gene: slc30a5 has been classified as Amber List (Moderate Evidence).

7 Jun 2021, Gel status: 2

Entity classified by Genomics England curator

Sue White (Victorian Clinical Genetics Services)

Gene: slc30a5 has been classified as Amber List (Moderate Evidence).

7 Jun 2021, Gel status: 0

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Melanie Marty (Victorian Clinical Genetics Services)

gene: SLC30A5 was added gene: SLC30A5 was added to Cardiomyopathy_Paediatric. 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