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Primary immunodeficiency

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

Ivone Leong (Genomics England Curator)

Comment on list classification: New gene added by Kelsey Jones (Great Ormond Street Hospital). This gene is associated with a phenotype in OMIM and not Gene2Phenotype. Based on the expert review and available evidence this gene has been given an Amber rating.
Created: 1 Feb 2021, 1:49 p.m. | Last Modified: 1 Feb 2021, 1:49 p.m.
Panel Version: 2.400

Kelsey Jones (Great Ormond Street Hospital)

I don't know

Described as a monogenic cause of VEOIBD (recognised criteria for the R15 panel). 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: 29 Jan 2021, 5:07 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Very Early Onset Inflammatory Bowel Disease; Congenital sodium diarrhoea

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • Very Early Onset Inflammatory Bowel Disease
  • Diarrhea 8, secretory sodium, congenital, OMIM:616868
OMIM
182307
Clinvar variants
Variants in SLC9A3
Penetrance
Incomplete
Publications
Panels with this gene

History Filter Activity

1 Feb 2021, Gel status: 2

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

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

1 Feb 2021, Gel status: 0

Set Phenotypes

Ivone Leong (Genomics England Curator)

Phenotypes for gene: SLC9A3 were changed from Very Early Onset Inflammatory Bowel Disease; Congenital sodium diarrhoea to Very Early Onset Inflammatory Bowel Disease; Diarrhea 8, secretory sodium, congenital, OMIM:616868

1 Feb 2021, Gel status: 0

Set publications

Ivone Leong (Genomics England Curator)

Publications for gene: SLC9A3 were set to PMID: 26358773

29 Jan 2021, Gel status: 0

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

Kelsey Jones (Great Ormond Street Hospital)

gene: SLC9A3 was added gene: SLC9A3 was added to Primary immunodeficiency. Sources: Expert Review Mode of inheritance for gene: SLC9A3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC9A3 were set to PMID: 26358773 Phenotypes for gene: SLC9A3 were set to Very Early Onset Inflammatory Bowel Disease; Congenital sodium diarrhoea Penetrance for gene: SLC9A3 were set to Incomplete Review for gene: SLC9A3 was set to AMBER