SLC9A3R1

SLC9A3 regulator 1
OMIM: 604990, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels
Red SLC9A3R1 in Hypophosphataemia or rickets


Level 2: Endocrinology
Version 4.2
Latest signed off version: v4.0 (30 Apr 2025)

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Nephrolithiasis/osteoporosis, hypophosphatemic, 2 (612287)
Tags
  • new-gene-name
Amber SLC9A3R1 in Nephrocalcinosis or nephrolithiasis


Level 2: Renal
Version 5.5
Latest signed off version: v5.0 (30 Apr 2025)

Component of the following Super Panels:

  • Unexplained young onset end-stage renal disease
  • review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Amber
    • Expert
    • Radboud University Medical Center, Nijmegen
    Phenotypes
    • Nephrolithiasis/osteoporosis, hypophosphatemic, 2, 612287
    Tags
    • new-gene-name
    Red SLC9A3R1 in Renal tubulopathies


    Level 2: Renal
    Version 5.11
    Latest signed off version: v5.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Unexplained young onset end-stage renal disease
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Red
    • NHS GMS
    Phenotypes
    • Nephrolithiasis/osteoporosis, hypophosphatemic, 2, 612287
    Tags
    • new-gene-name