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Newborns main panel

Gene: SLC5A6

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

1 review

Mafalda Gomes (Genomics England Curator)

The mechanism of pathogenicity is loss-of-function (LOF).
Created: 1 Jun 2023, 2:40 p.m. | Last Modified: 1 Jun 2023, 2:40 p.m.
Panel Version: 0.137
PMID: 35217562 (4 families) + Meriel knows of one unreported UK case.
Created: 1 Jun 2023, 12:22 p.m. | Last Modified: 1 Jun 2023, 12:22 p.m.
Panel Version: 0.135
Created: 1 Jun 2023, 12:22 p.m.
Last Modified: 1 Jun 2023, 12:22 p.m.
Panel version: 0.137

Details

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

History Filter Activity

14 Sep 2023, Gel status: 2

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Amber was added to SLC5A6. Added phenotypes Sodium-dependent multivitamin transporter deficiency for gene: SLC5A6 Rating Changed from Green List (high evidence) to Amber List (moderate evidence)

5 Jul 2023, Gel status: 3

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Green was added to SLC5A6. Added phenotypes Sodium-dependent multivitamin transporter deficiency for gene: SLC5A6 Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

31 May 2023, Gel status: 2

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Amber was added to SLC5A6. Added phenotypes Sodium-dependent multivitamin transporter deficiency for gene: SLC5A6 Rating Changed from Green List (high evidence) to Amber List (moderate evidence)

5 May 2023, Gel status: 3

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Green was added to SLC5A6. Added phenotypes Sodium-dependent multivitamin transporter deficiency for gene: SLC5A6 Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

9 Mar 2023, Gel status: 2

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

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

9 Mar 2023, Gel status: 2

Created, Added New Source, Set mode of inheritance

Mafalda Gomes (Genomics England Curator)

gene: SLC5A6 was added gene: SLC5A6 was added to Newborns main panel. Sources: Expert Review Amber Mode of inheritance for gene: SLC5A6 was set to BIALLELIC, autosomal or pseudoautosomal