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Cardiomyopathies - including childhood onset

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 2 panels

2 reviews

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

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

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
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

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

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

15 Jun 2021, Gel status: 0

Added Tag

Ivone Leong (Genomics England Curator)

Tag watchlist tag was added to gene: SLC30A5.

15 Jun 2021, Gel status: 0

Set Phenotypes

Ivone Leong (Genomics England Curator)

Phenotypes for gene: SLC30A5 were changed from Perinatal lethal cardiomyopathy to Perinatal lethal cardiomyopathy; cardiomyopathy, MONDO:0004994

12 Jun 2021, Gel status: 0

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

Zornitza Stark (Australian Genomics)

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