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Prepair 1000+

Gene: SLC9A3

Green List (high evidence)
SLC9A3 (solute carrier family 9 member A3)
EnsemblGeneIds (GRCh38): ENSG00000066230
EnsemblGeneIds (GRCh37): ENSG00000066230
OMIM: 182307, Gene2Phenotype
SLC9A3 is in 6 panels

2 reviews

Lilian Downie (Victorian Clinical Genetics Services)

Comment when marking as ready: Downgrade to RED for severity (mild, children thrive on normal diet)
Created: 12 Dec 2024, 2:05 a.m. | Last Modified: 12 Dec 2024, 2:05 a.m.
Panel Version: 1.679
Created: 12 Dec 2024, 2:05 a.m.
Last Modified: 12 Dec 2024, 2:05 a.m.
Panel version: 1.679

Andrew Coventry (Victorian Clinical Genetics Services)

I don't know

Condition reported to be characterised by hyponatremia and congenital diarrhoea. Antenatal signs of polyhydramnios and intestinal dilation can often be present in 3rd trimester.
There are reports of individuals developing inflammatory bowel disease in childhood - 2 individuals at age 4 and 16 years old, with younger patient requiring ileocecal resection and temporary ileostomy (PMID: 26358773).
GWAS have indicated a strong association between SLC9A3 and IBD, and there are supportive mouse models (reviewed in PMID: 26358773)
Growth and development of affected individuals reported to be unaffected. Treatments can provide rehydration/electrolyte replacement.
PMID 35775128 - 2022, more recent case report - milder end of spectrum, with congenital diarrhoea.
Over 10 patients reported in literature.
Mouse model present.

Question severity of condition for inclusion on reproductive screening test. Dept on an assessment of impact of condition on quality of life for affected individuals. Consideration of efficacy of treatments. Information appears limited on long term impacts/efficacy of available treatments.

MM review - orange, with comment trending towards red ?severity.
Created: 12 Dec 2024, 12:43 a.m. | Last Modified: 12 Dec 2024, 12:43 a.m.
Panel Version: 1.633

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Diarrhea 8, secretory sodium, congenital MIM#616868

Publications

Created: 12 Dec 2024, 12:43 a.m.
Last Modified: 12 Dec 2024, 12:43 a.m.
Panel version: 1.633

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Diarrhea 8, secretory sodium, congenital, 616868 (3), Autosomal recessive
Tags
for review
OMIM
182307
Clinvar variants
Variants in SLC9A3
Penetrance
None
Publications
Panels with this gene

History Filter Activity

12 Dec 2024, Gel status: 3

Entity classified by Genomics England curator

Lilian Downie (Victorian Clinical Genetics Services)

Gene: slc9a3 has been classified as Green List (High Evidence).

12 Dec 2024, Gel status: 3

Added Tag

Lilian Downie (Victorian Clinical Genetics Services)

Tag for review tag was added to gene: SLC9A3.

12 Dec 2024, Gel status: 3

Set publications

Lilian Downie (Victorian Clinical Genetics Services)

Publications for gene: SLC9A3 were set to

1 Jun 2022, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: SLC9A3 was added gene: SLC9A3 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green 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, 616868 (3), Autosomal recessive