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  2. Inflammatory bowel disease
  3. SLC9A3
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Inflammatory bowel disease

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 6 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

Described as a monogenic cause of VEOIBD. 2 patients from unrelated families in a series of 9 cases with SLC9A3-related congenital sodium diarrhoea developed intestinal inflammation/IBD (PMID: 26358773). GWAS have indicated a strong association between SLC9A3 and IBD, and there are supportive mouse models (reviewed in PMID: 26358773).Included on a monogenic IBD gene panel proposed by The Paediatric IBD Porto Group of ESPGHAN (PMID: 33346580).
Sources: Expert Review
Created: 31 Jan 2021, 10:13 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Diarrhoea 8, secretory sodium, congenital 616868; Very Early Onset Inflammatory Bowel Disease

Publications

Created: 31 Jan 2021, 10:13 a.m.

Panel version: 0.36

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Expert Review
Phenotypes
  • Diarrhoea 8, secretory sodium, congenital 616868
  • Very Early Onset Inflammatory Bowel Disease
OMIM
182307
Clinvar variants
Variants in SLC9A3
Penetrance
None
Publications
Panels with this gene

History Filter Activity

31 Jan 2021, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

31 Jan 2021, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

31 Jan 2021, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: SLC9A3 was added gene: SLC9A3 was added to Inflammatory bowel disease. Sources: Expert Review Mode of inheritance for gene: SLC9A3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC9A3 were set to 26358773; 33346580 Phenotypes for gene: SLC9A3 were set to Diarrhoea 8, secretory sodium, congenital 616868; Very Early Onset Inflammatory Bowel Disease Review for gene: SLC9A3 was set to AMBER