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Newborns main panel

Gene: SLC9A3

Amber List (moderate evidence)
SLC9A3 (solute carrier family 9 member A3)
EnsemblGeneIds (GRCh38): ENSG00000066230
EnsemblGeneIds (GRCh37): ENSG00000066230
OMIM: 182307, Gene2Phenotype
SLC9A3 is in 4 panels

2 reviews

Arina Puzriakova (Genomics England Curator)

Special Consideration: Gene removed from study but not the pipeline.

Additional Information: A decision was made to remove this gene from the study. Variants should be ignored while the gene is being removed from the pipeline.
Created: 15 Oct 2025, 2:50 p.m. | Last Modified: 15 Oct 2025, 2:50 p.m.
Panel Version: 0.480
Created: 15 Oct 2025, 2:50 p.m.
Last Modified: 15 Oct 2025, 2:50 p.m.
Panel version: 0.480

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: 31276831 - 1 case report and review of 10 previous cases
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
  • Diarrhoea 8, secretory sodium, congenital
Tags
special_consideration condition_removed
OMIM
182307
Clinvar variants
Variants in SLC9A3
Penetrance
None
Panels with this gene

History Filter Activity

24 Nov 2025, Gel status: 2

Entity classified by Genomics England curator

Arina Puzriakova (Genomics England Curator)

Gene: slc9a3 has been classified as Amber List (Moderate Evidence).

15 Oct 2025, Gel status: 3

Added Tag, Added Tag

Arina Puzriakova (Genomics England Curator)

Tag special_consideration tag was added to gene: SLC9A3. Tag condition_removed tag was added to gene: SLC9A3.

7 Feb 2024, Gel status: 3

Set Phenotypes

Ivone Leong (Genomics England Curator)

Phenotypes for gene: SLC9A3 were changed from Diarrhea 8, secretory sodium, congenital to Diarrhoea 8, secretory sodium, congenital

14 Sep 2023, Gel status: 3

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes Diarrhea 8, secretory sodium, congenital for gene: SLC9A3

5 Jul 2023, Gel status: 3

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes Diarrhea 8, secretory sodium, congenital for gene: SLC9A3

31 May 2023, Gel status: 3

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Green was added to SLC9A3. Added phenotypes Diarrhea 8, secretory sodium, congenital for gene: SLC9A3 Rating Changed from No List (delete) to Green List (high evidence)

27 Mar 2023, Gel status: 0

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes Diarrhea 8, secretory sodium, congenital for gene: SLC9A3

9 Mar 2023, Gel status: 0

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

Mafalda Gomes (Genomics England Curator)

gene: SLC9A3 was added gene: SLC9A3 was added to Newborns main panel. Sources: Expert Review Removed Mode of inheritance for gene: SLC9A3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SLC9A3 were set to Diarrhea 8, secretory sodium, congenital