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  3. SLC30A7
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Fetal anomalies

Gene: SLC30A7

Amber List (moderate evidence)
SLC30A7 (solute carrier family 30 member 7)
EnsemblGeneIds (GRCh38): ENSG00000162695
EnsemblGeneIds (GRCh37): ENSG00000162695
OMIM: 611149, Gene2Phenotype
SLC30A7 is in 2 panels

2 reviews

Achchuthan Shanmugasundram (Genomics England Curator)

This gene and phenotype were reviewed during meetings between November 2024 & January 2025. The meetings included representatives of the Central & South and North Thames R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Stephanie Allen, Natalie Bibb, and Sarah Graham (Central & South GLH), Natalie Chandler and Elizabeth Scotchman (North Thames GLH), and Sunayna Best, Anna De Burca, Natalie Canham, Samantha Doyle, Alice Gardham, Victoria Harrison, Esther Kinning, Sahar Mansour, Soo-Mi Park, and Elizabeth Wall (R21 Clinical Oversight Group).
Created: 20 Feb 2025, 9:40 p.m. | Last Modified: 20 Feb 2025, 9:40 p.m.
Panel Version: 5.16
Created: 20 Feb 2025, 9:40 p.m.
Last Modified: 20 Feb 2025, 9:40 p.m.
Panel version: 5.16

Stephanie Allen (Birmingham Women's NHS Foundation Trust)

I don't know

G2P limited gene-disease association, not green on any other panels. PMID 36821639: 2 sibs (recessive), and only feature identifiable prenatally IUGR, (Ziegler-Huang syndrome (ZHS) is a bone marrow failure syndrome). PMID: 35751429 (Dominant de novo) De novo heterozygous variants in SLC30A7 are a candidate cause for Joubert syndrome - 2 patients only.
Created: 20 Feb 2025, 9:35 p.m. | Last Modified: 20 Feb 2025, 9:35 p.m.
Panel Version: 5.15

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Ziegler-Huang syndrome, MIM#620501

Publications

Created: 20 Feb 2025, 9:35 p.m.
Last Modified: 20 Feb 2025, 9:35 p.m.
Panel version: 5.15

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • Ziegler-Huang syndrome, OMIM:620501
OMIM
611149
Clinvar variants
Variants in SLC30A7
Penetrance
None
Publications
Panels with this gene

History Filter Activity

20 Feb 2025, Gel status: 2

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

Achchuthan Shanmugasundram (Genomics England Curator)

gene: SLC30A7 was added gene: SLC30A7 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Amber Mode of inheritance for gene: SLC30A7 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC30A7 were set to 36821639 Phenotypes for gene: SLC30A7 were set to Ziegler-Huang syndrome, OMIM:620501