SLC12A3

solute carrier family 12 member 3
OMIM: 600968, Gene2Phenotype

7 panels

Panel Reviews Mode of inheritance Details
7 panels

Red SLC12A3 in Ductal plate malformation


Version 1.18

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Radboud University Medical Center, Nijmegen, Expert list
Phenotypes
  • Gitelman syndrome (263800)

Green SLC12A3 in Undiagnosed metabolic disorders

Level 3: Specific metabolic abnormalities
Level 2: Metabolic disorders
Version 1.486

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Gitelman syndrome (Disorder of magnesium metabolism)
  • Renal tubular acidosis

Green SLC12A3 in Inborn errors of metabolism


Version 2.180
Latest signed off version: v2.3 (17 Feb 2020)

Component of the following Super Panels:

  • Hypotonic infant
  • Paediatric disorders
  • White matter disorders - childhood onset
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • London North GLH
    • NHS GMS
    Phenotypes
    • Gitelman syndrome (Disorder of magnesium metabolism)
    • Renal tubular acidosis

    Green SLC12A3 in Renal tubulopathies

    Level 3: Disorders of function
    Level 2: Renal and urinary tract disorders
    Version 2.27
    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
    • Hypokalaemic alkalosis with hypomagnesaemia & hypocalciuria
    • Gitelman syndrome, 263800

    Green SLC12A3 in Groopman et al 2019 - Genes with diagnostic variants


    Version 0.8

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert review green
    • Literature
    Phenotypes
    • Tubulointerstitial disease
    • MIM 263800
    • Glomerulopathy
    • Gitelman syndrome

    Red SLC12A3 in Childhood onset dystonia or chorea or related movement disorder


    Version 1.152
    Latest signed off version: v1.137 (5 Aug 2021)

    review Not set
    Sources
    • Expert Review Red
    • London North GLH

    Green SLC12A3 in Severe Paediatric Disorders


    Version 1.84

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Gitelman syndrome, 263800