1. Genes and Genomic Entities
  2. SLC34A3

SLC34A3

solute carrier family 34 member 3
OMIM: 609826, Gene2Phenotype

6 panels

Panel Reviews Mode of inheritance Details
6 panels
Green SLC34A3 in Hypophosphataemia or rickets


Level 2: Endocrinology
Version 4.5
Latest signed off version: v4.4 (12 Aug 2026)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
  • Emory Genetics Laboratory
  • UKGTN
Phenotypes
  • Hypophosphatemic rickets with hypercalciuria (241530)
Green SLC34A3 in Nephrocalcinosis or nephrolithiasis


Level 2: Renal
Version 6.3
Latest signed off version: v6.2 (12 Aug 2026)

Component of the following Super Panels:

  • Unexplained young onset end-stage renal disease

    		•  review BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Green
    • Expert
    • Radboud University Medical Center, Nijmegen
    • UKGTN
    Phenotypes
    • Hypophosphatemic rickets with hypercalciuria, OMIM:241530
    • HHRH
    • hereditary hypophosphatemic rickets with hypercalciuria, MONDO:0009431
    Green SLC34A3 in Skeletal dysplasia


    Level 2: Musculoskeletal
    Version 10.5
    Latest signed off version: v10.0 (12 Aug 2026)

    Component of the following Super Panels:

  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Green
    • Radboud University Medical Center, Nijmegen
    • UKGTN
    • Expert list
    • Emory Genetics Laboratory
    Phenotypes
    • Hypophosphatemic rickets with hypercalciuria 241530
    Amber SLC34A3 in Fetal anomalies


    Level 2: Fetal (including NIPD)
    Version 8.5
    Latest signed off version: v8.0 (12 Aug 2026)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • NHS GMS
    Phenotypes
    • Hypophosphatemic rickets with hypercalciuria, OMIM:241530
    Red SLC34A3 in Osteogenesis imperfecta


    Level 2: Musculoskeletal
    Version 6.8
    Latest signed off version: v6.7 (12 Aug 2026)

    		review Not set
    Sources
    • Expert Review Red
    • Emory Genetics Laboratory
    Phenotypes
    • Osteogenesis Imperfecta and Decreased Bone Density
    • skeletal dysplasias
    Red SLC34A3 in Renal tubulopathies


    Level 2: Renal
    Version 6.10
    Latest signed off version: v6.9 (12 Aug 2026)

    Component of the following Super Panels:

  • Unexplained young onset end-stage renal disease

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • NHS GMS
    Phenotypes
    • Hypophosphatemic rickets with hypercalciuria, 241530