SLC34A3

solute carrier family 34 member 3
OMIM: 609826, ClinGen, DECIPHER

7 panels

Panel Reviews Mode of inheritance Details
7 panels

Green SLC34A3 in Hypophosphataemia or rickets


Level 2: Endocrine disorders; Skeletal disorders
Version 1.0

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

Green SLC34A3 in Mendeliome


Version 2.612

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

No list SLC34A3 in Renal Macrocystic Disease


Level 2: Renal and urinary tract disorders
Version 2.0

Component of the following Super Panels:

  • Kidneyome_SuperPanel
  • Renal Cystic Disease_SuperPanel
  • 1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Literature
    Phenotypes
    • Hypophosphataemic rickets with hypercalciuria, (MIM#241530)

    Green SLC34A3 in Skeletal dysplasia

    Level 3: Skeletal dysplasias
    Level 2: Skeletal disorders
    Version 1.152

    1 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 1.1

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

    Green SLC34A3 in Genomic newborn screening: BabyScreen+


    Level 2: Screening
    Version 2.7

    2 reviews 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 2.9

    Component of the following Super Panels:

  • Kidneyome_SuperPanel
  • 2 reviews 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)