SLC12A1

solute carrier family 12 member 1
OMIM: 600839, Gene2Phenotype

5 panels

Panel Reviews Mode of inheritance Details
5 panels

Red SLC12A1 in Monogenic nephrogenic diabetes insipidus


Version 1.8

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • hyperparathyroidism, hypercalcemia, nephrogenic diabetes insipidus, and nephrocalcinosis
  • associated with Barter syndrome and secondary inherited NDI only

Green SLC12A1 in Nephrocalcinosis or nephrolithiasis

Level 3: Disorders of function
Level 2: Renal and urinary tract disorders
Version 2.36
Latest signed off version: v2.2 (13 Feb 2020)

Component of the following Super Panels:

  • Renal superpanel - broad
  • Renal superpanel - narrow
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert
    • Radboud University Medical Center, Nijmegen
    • Illumina TruGenome Clinical Sequencing Services
    Phenotypes
    • Type 1 Bartter syndrome: infantile onset, pregnancy noted for polyhydramnios
    • Hyperprostagladinuria
    • Hypokalaemia and metabolic alkalosis +/- nephrocalcinosis
    • Antenatal Bartter Syndrome
    • Bartter syndrome, type 1, 601678

    Green SLC12A1 in Fetal anomalies


    Version 1.880
    Latest signed off version: v1.92 (21 Aug 2020)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • PAGE Additional Gene List
    • Expert Review Green
    Phenotypes
    • Bartter syndrome, type 1 601678

    Green SLC12A1 in Renal tubulopathies

    Level 3: Disorders of function
    Level 2: Renal and urinary tract disorders
    Version 2.62
    Latest signed off version: v2.23 (16 Oct 2020)

    Component of the following Super Panels:

  • Renal superpanel - broad
  • Renal superpanel - narrow
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Green
    • Eligibility statement prior genetic testing
    Phenotypes
    • Type 1 Bartter syndrome: infantile onset, pregnancy noted for polyhydramnios. Hyperprostagladinuria. Hypokalaemia and metabolic alkalosis +/- nephrocalcinosis
    • Bartter syndrome, type 1, 601678

    Green SLC12A1 in Severe Paediatric Disorders


    Version 1.127

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Bartter syndrome, type 1, 601678