SLC9A3

solute carrier family 9 member A3
OMIM: 182307, Gene2Phenotype

4 panels

Panel Reviews Mode of inheritance Details
4 panels
Red SLC9A3 in Gastrointestinal epithelial barrier disorders

Level 3: Gastrointestinal disorders
Level 2: Gastroenterological disorders
Version 1.75

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Diarrhea 8, secretory sodium, congenital, 616868
Red SLC9A3 in Nephrocalcinosis or nephrolithiasis

Level 3: Disorders of function
Level 2: Renal and urinary tract disorders
Version 4.13
Latest signed off version: v4.0 (22 Mar 2023)

Component of the following Super Panels:

  • Renal superpanel - broad
  • Renal superpanel - narrow
  • review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert
    Green SLC9A3 in Intestinal failure or congenital diarrhoea


    Version 3.3
    Latest signed off version: v3.0 (22 Mar 2023)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • NHS GMS
    Phenotypes
    • Diarrhea 8, secretory sodium, congenital, OMM:616868
    Amber SLC9A3 in Primary immunodeficiency or monogenic inflammatory bowel disease


    Version 4.202
    Latest signed off version: v4.0 (22 Mar 2023)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Expert Review
    Phenotypes
    • Very Early Onset Inflammatory Bowel Disease
    • Diarrhea 8, secretory sodium, congenital, OMIM:616868