SLC12A3

solute carrier family 12 member 3
OMIM: 600968, Gene2Phenotype

6 panels

Panel Reviews Mode of inheritance Details
6 panels

Green SLC12A3 in Mendeliome


Version 1.1902

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Gitelman syndrome, MIM# 263800

Green SLC12A3 in Additional findings_Paediatric


Level 2: Screening
Version 0.278

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Gitelman syndrome

Green SLC12A3 in Metal Metabolism Disorders


Level 2: Metabolic disorders
Version 0.45

Component of the following Super Panels:

  • Metabolic Disorders Superpanel
  • Progressive Neurological Conditions
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    Phenotypes
    • Disorders of magnesium metabolism
    • Gitelman syndrome MONDO:0009904

    Red SLC12A3 in Prepair 1000+


    Level 2: Screening
    Version 1.9

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Literature
    Phenotypes
    • Gitelman syndrome (MIM#263800)

    Red SLC12A3 in BabyScreen+ newborn screening


    Level 2: Screening
    Version 1.114

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • BabySeq Category A gene
    Phenotypes
    • Gitelman syndrome, MIM# 263800

    Green SLC12A3 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
    • Victorian Clinical Genetics Services
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Gitelman syndrome, MIM# 263800