1. Genes and Genomic Entities
  2. SLC12A1

SLC12A1

solute carrier family 12 member 1
OMIM: 600839, Gene2Phenotype

4 panels

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


Version 1.12

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 2: Renal
Version 5.5
Latest signed off version: v5.0 (30 Apr 2025)

Component of the following Super Panels:

  • Unexplained young onset end-stage renal disease

    		•  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
    Green SLC12A1 in Fetal anomalies


    Level 2: Fetal (including NIPD)
    Version 6.140
    Latest signed off version: v6.0 (30 Apr 2025)

    		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 2: Renal
    Version 5.11
    Latest signed off version: v5.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Unexplained young onset end-stage renal disease

    		•  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