SLC34A3

solute carrier family 34 member 3
OMIM: 609826, Gene2Phenotype

6 panels

Panel Reviews Mode of inheritance Details
6 panels

Green SLC34A3 in Mendeliome


Version 1.1902

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Hypophosphatemic rickets with hypercalciuria, (MIM#241530)

Green SLC34A3 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
Phenotypes
  • Hypophosphataemic rickets with hypercalciuria, (MIM#241530)

Green SLC34A3 in Skeletal dysplasia

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

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

Green SLC34A3 in Additional findings_Paediatric


Level 2: Screening
Version 0.278

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Hypophosphatemic rickets with hypercalciuria

Green SLC34A3 in BabyScreen+ newborn screening


Level 2: Screening
Version 1.114

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • BabySeq Category A gene
Phenotypes
  • Hypophosphatemic rickets with hypercalciuria, MIM#241530
Tags
  • treatable
  • skeletal

Green SLC34A3 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 BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • KidGen_CalcPhos v38.1.0
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Hypophosphataemic rickets with hypercalciuria, (MIM#241530)