PanelApp (test)
  1. Genes and Genomic Entities
  2. SLC34A1

SLC34A1

solute carrier family 34 member 1
OMIM: 182309, Gene2Phenotype

5 panels

Panel Reviews Mode of inheritance Details
5 panels

Green SLC34A1 in Hypercalcaemia


Level 2: Endocrine disorders
Version 1.2

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Hypercalcaemia, infantile, 2 MIM#616963

Green SLC34A1 in Mendeliome


Version 1.1902

review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Hypercalcaemia, infantile, 2 MIM#616963
  • Nephrolithiasis/osteoporosis, hypophosphatemic, 1 612286

Green SLC34A1 in Calcium and Phosphate disorders


Level 2: Renal and urinary tract disorders; Endocrine disorders
Version 1.24

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • KidGen_CalcPhos v38.1.0
  • Victorian Clinical Genetics Services
Phenotypes
  • Hypercalcaemia, infantile, 2 MIM#616963

Green SLC34A1 in Skeletal dysplasia

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 0.285

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Expert Review Green
  • Other
  • Victorian Clinical Genetics Services
Phenotypes
  • Nephrolithiasis/osteoporosis, hypophosphatemic, 1, 612286

Green SLC34A1 in Renal Tubulopathies and related disorders


Level 2: Renal and urinary tract disorders
Version 1.14

Component of the following Super Panels:

  • Kidneyome_SuperPanel

    		•  review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • KidGen_CalcPhos v38.1.0
    • Expert Review Green
    • Expert Review Green
    • KidGen_CalcPhos v38.1.0
    • Victorian Clinical Genetics Services
    Phenotypes
    • Nephrolithiasis/osteoporosis, hypophosphatemic, 1 612286
    • Hypercalcaemia, infantile, 2 MIM#616963