1. Genes and Genomic Entities
  2. SLC34A1

SLC34A1

solute carrier family 34 member 1
OMIM: 182309, Gene2Phenotype

6 panels

Panel Reviews Mode of inheritance Details
6 panels
Green SLC34A1 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 Green
  • Literature
Phenotypes
  • Nephrolithiasis/osteoporosis, hypophosphatemic, 1 (612286)
Green SLC34A1 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 BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert
    • Illumina TruGenome Clinical Sequencing Services
    • Radboud University Medical Center, Nijmegen
    Phenotypes
    • Nephrolithiasis/osteoporosis, hypophosphatemic, 1, 612286
    • Hypophosphatemic Nephrolithiasis/Osteoporosis
    • Hypophosphatemic Nephrolithiasis/Osteoporosis (recessive)
    • Nephrolithiasis with osteoporosis and hypophosphatemia
    • Nephrolithiasis with osteoporosis and hypophosphatemia
    Red SLC34A1 in Cytopenias and congenital anaemias

    Level 3: Anaemias and red cell disorders
    Level 2: Haematological disorders
    Version 1.123

    		review Not set
    Sources
    • Expert Review Red
    • Radboud University Medical Center, Nijmegen
    Phenotypes
    • Nephrolithiasis/osteoporosis, hypophosphatemic, 1, 612286
    • Fanconi renotubular syndrome 2, 613388
    Green SLC34A1 in Skeletal dysplasia


    Level 2: Musculoskeletal
    Version 8.35
    Latest signed off version: v8.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Paediatric disorders

    		•  review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    • Other
    Phenotypes
    • Nephrolithiasis/osteoporosis, hypophosphatemic, 1, 612286
    Green SLC34A1 in Fetal anomalies


    Level 2: Fetal (including NIPD)
    Version 6.141
    Latest signed off version: v6.0 (30 Apr 2025)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • NHS GMS
    Phenotypes
    • Infantile hypercalcemia-2, OMIM:616963
    Red SLC34A1 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 BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • NHS GMS
    Phenotypes
    • Hypercalcemia, infantile, 2, MIM 616963
    • Nephrolithiasis/osteoporosis, hypophosphatemic, 1, 612286
    • ?Fanconi renotubular syndrome 2 613388