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Fetal anomalies

Gene: SLC5A6

Green List (high evidence)
SLC5A6 (solute carrier family 5 member 6)
EnsemblGeneIds (GRCh38): ENSG00000138074
EnsemblGeneIds (GRCh37): ENSG00000138074
OMIM: 604024, Gene2Phenotype
SLC5A6 is in 6 panels

2 reviews

Arina Puzriakova (Genomics England Curator)

Green List (high evidence)

The rating of this gene has been updated to Green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.
Created: 10 Mar 2026, 12:27 p.m. | Last Modified: 10 Mar 2026, 12:27 p.m.
Panel Version: 6.149
This gene and phenotype were reviewed during meetings between November 2025 & January 2026. 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, Elizabeth Young and Sarah Graham (Central & South GLH), Natalie Chandler and Elizabeth Scotchman (North Thames GLH), and Tazeen Ashraf, Anna De Burca, Natalie Canham, Samantha Doyle, Alice Gardham, Victoria Harrison, Tessa Homfray, Esther Kinning, and Soo-Mi Park (R21 Clinical Oversight Group).
Created: 10 Mar 2026, 11:35 a.m. | Last Modified: 10 Mar 2026, 11:35 a.m.
Panel Version: 6.148
Created: 10 Mar 2026, 11:35 a.m.
Last Modified: 10 Mar 2026, 11:35 a.m.
Panel version: 6.150

Samantha Doyle (The National Maternity Hospital)

Green List (high evidence)

PMID: 37391029- Describes 3 patients from the same family. The patients presented with - developmental delay, hypotonia, optic atrophy, peripheral neuropathy, repeated episodes of intestinal pseudo-obstruction, and recurrent infections. One of these presented at 6 months with GDD and recurrent infections. Brain imaging was normal. Another presented later in life and had normal scans in pregnancy. I cannot see features that would have a prenatal phenotype in the literature to date.PMID: 27904971: This is a case report documenting an affected child. There is no prenatal phenotype. PMID 31754459 - this paper details 2 affected children from the same family. They had a thin corpus callosum, this is the only feature which might be seen prenatally and isn't consistent in other papers.
Created: 10 Mar 2026, 11:27 a.m. | Last Modified: 10 Mar 2026, 11:27 a.m.
Panel Version: 6.147

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Sodium-dependent multivitamin transporter deficiency, OMIM:618973

Publications

Created: 10 Mar 2026, 11:27 a.m.
Last Modified: 10 Mar 2026, 11:27 a.m.
Panel version: 6.147

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Sodium-dependent multivitamin transporter deficiency, OMIM:618973
OMIM
604024
Clinvar variants
Variants in SLC5A6
Penetrance
None
Panels with this gene

History Filter Activity

10 Mar 2026, Gel status: 3

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Added phenotypes Sodium-dependent multivitamin transporter deficiency, OMIM:618973 for gene: SLC5A6

9 Mar 2026, Gel status: 3

Created, Added New Source, Set mode of inheritance

Arina Puzriakova (Genomics England Curator)

gene: SLC5A6 was added gene: SLC5A6 was added to Fetal anomalies. Sources: Expert Review Green Mode of inheritance for gene: SLC5A6 was set to BIALLELIC, autosomal or pseudoautosomal