SLC12A1

solute carrier family 12 member 1
OMIM: 600839, Gene2Phenotype

6 panels

Panel Reviews Mode of inheritance Details
6 panels
Red SLC12A1 in Monogenic nephrogenic diabetes insipidus


Version 1.11

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Bartter syndrome, type 1, OMIM:601678
  • Bartter disease type 1, MONDO:0100344
Tags
  • monogenic-polygenic
Green SLC12A1 in Nephrocalcinosis or nephrolithiasis

Level 3: Disorders of function
Level 2: Renal and urinary tract disorders
Version 4.13
Latest signed off version: v4.0 (22 Mar 2023)

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
    • Bartter syndrome, type 1, OMIM:601678
    • Bartter disease type 1, MONDO:0100344
    Tags
    • monogenic-polygenic
    Amber SLC12A1 in Unexplained young onset end-stage renal disease


    Version 3.38
    Latest signed off version: v3.0 (22 Mar 2023)

    Component of the following Super Panels:

  • Renal superpanel - broad
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Amber
    Phenotypes
    • Bartter syndrome, type 1, OMIM:601678
    • Bartter disease type 1, MONDO:0100344
    Tags
    • Q4_23_promote_green
    Green SLC12A1 in Fetal anomalies


    Version 3.136
    Latest signed off version: v3.0 (22 Mar 2023)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • PAGE Additional Gene List
    • Expert Review Green
    Phenotypes
    • Bartter syndrome, type 1, OMIM:601678
    • Bartter disease type 1, MONDO:0100344
    Tags
    • monogenic-polygenic
    Green SLC12A1 in Renal tubulopathies

    Level 3: Disorders of function
    Level 2: Renal and urinary tract disorders
    Version 4.17
    Latest signed off version: v4.0 (22 Mar 2023)

    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
    • Bartter syndrome, type 1, OMIM:601678
    • Bartter disease type 1, MONDO:0100344
    Tags
    • monogenic-polygenic
    Green SLC12A1 in Severe Paediatric Disorders


    Version 1.182

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Bartter syndrome, type 1, OMIM:601678
    • Bartter disease type 1, MONDO:0100344
    Tags
    • monogenic-polygenic