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Fetal anomalies

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

2 reviews

Arina Puzriakova (Genomics England Curator)

I don't know

New gene added to this panel with an Amber rating, inline with the recent review by the R21 Clinical Oversight Group.
Created: 5 Sep 2025, 4:41 p.m. | Last Modified: 5 Sep 2025, 4:41 p.m.
Panel Version: 6.29
Created: 5 Sep 2025, 4:41 p.m.
Last Modified: 5 Sep 2025, 4:41 p.m.
Panel version: 6.29

Natalie Chandler (North Thames GLH)

I don't know

This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Created: 5 Sep 2025, 4:31 p.m. | Last Modified: 5 Sep 2025, 4:31 p.m.
Panel Version: 6.28
Amber on hydrops panel with a green review added but not approved yet. PMID 33547425 Four affected children from two unrelated families with cardiomyopathy, hydrops fetalis, or cystic hygroma that all deceased perinatally. 2 different homozygous PTCs variants found. PMID 12095919 Knockout of SLC30A5 in mouse models showed reduced body growth and reduced bone density. About 60% of the mice died due to bradyarrhythmia. Suggest male-specific. PMID: 39790720 three closely?related consanguineous families of the same inbred Bedouin tribe. 5 probands all hom for same 3 bp indel. severe non?progressive neonatal axial and limb hypotonia with high?arched palate and respiratory failure. There was no evidence of hydrops fetalis, cardiomyopathy or multi?organ involvement. Four of the affected infants had brain MRIs, with non?consistent nonspecific findings, such as varying degrees of thinning of the corpus callosum, increased extra?axial space, mega?cisterna magna, and mild ventriculomegaly, possibly suggestive of cerebral atrophy. 3 variants 3 families 9 probands but not a complete match on phenotype but all have features relevant for prenatal. Is indel resulting in milder phenotype then PTC?
Created: 5 Sep 2025, 2:55 p.m. | Last Modified: 5 Sep 2025, 2:55 p.m.
Panel Version: 6.24

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Cardiomyopathy, hydrops fetalis, or cystic hygroma

Publications

Created: 5 Sep 2025, 2:55 p.m.
Last Modified: 5 Sep 2025, 2:55 p.m.
Panel version: 6.28

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • Cardiomyopathy, hydrops fetalis, or cystic hygroma
OMIM
607819
Clinvar variants
Variants in SLC30A5
Penetrance
None
Publications
Panels with this gene

History Filter Activity

5 Sep 2025, Gel status: 2

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

Arina Puzriakova (Genomics England Curator)

gene: SLC30A5 was added gene: SLC30A5 was added to Fetal anomalies. Sources: Expert Review Amber Mode of inheritance for gene: SLC30A5 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC30A5 were set to 33547425; 12095919; 39790720 Phenotypes for gene: SLC30A5 were set to Cardiomyopathy, hydrops fetalis, or cystic hygroma