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Fetal hydrops

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 3 panels

3 reviews

Irina Adamena (Children's Clinical University Hospital)

Green List (high evidence)

Four affected children with homozygous loss of function variants in SLC30A5 gene with cardiomyopathy, hydrops fetalis, or cystic hygroma (PMID: 33547425).
Created: 11 Apr 2024, 3:27 p.m. | Last Modified: 11 Apr 2024, 3:34 p.m.
Panel Version: 1.64

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
hydrops fetalis; cardiomyopathy; cystic hygroma

Publications

Created: 11 Apr 2024, 3:27 p.m.
Last Modified: 11 Apr 2024, 3:34 p.m.
Panel version: 1.64

Ivone Leong (Genomics England Curator)

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
Created: 15 Jun 2021, 3:31 p.m.
Last Modified: 15 Jun 2021, 3:31 p.m.
Copied from panel: Cardiomyopathies - including childhood onset v1.45

Zornitza Stark (Australian Genomics)

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: 12 Jun 2021, 2:33 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Perinatal lethal cardiomyopathy

Publications

Created: 12 Jun 2021, 2:33 a.m.

Copied from panel: Cardiomyopathies - including childhood onset v1.45

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Perinatal lethal cardiomyopathy
  • cardiomyopathy, MONDO:0004994
Tags
watchlist
OMIM
607819
Clinvar variants
Variants in SLC30A5
Penetrance
None
Publications
Panels with this gene

History Filter Activity

15 Jun 2021, Gel status: 2

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

Ivone Leong (Genomics England Curator)

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