SLC12A1

solute carrier family 12 member 1
OMIM: 600839, Gene2Phenotype

10 panels

Panel Reviews Mode of inheritance Details
10 panels

Green SLC12A1 in Mendeliome


Version 1.3512

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Bartter syndrome, type 1, MIM# 601678

Green SLC12A1 in Calcium and Phosphate disorders


Level 2: Renal and urinary tract disorders; Endocrine disorders
Version 1.29

2 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Bartter syndrome, type 1, OMIM #601678

Red SLC12A1 in Intellectual disability syndromic and non-syndromic


Level 2: Neurology and neurodevelopmental disorders
Version 1.410

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Genetic Health Queensland
Phenotypes
  • Bartter syndrome, type 1, MIM#601678

Green SLC12A1 in Mackenzie's Mission_Reproductive Carrier Screening


Level 2: Screening
Version 0.110

0 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Bartter syndrome, type 1, 601678 (3)

Green SLC12A1 in Additional findings_Paediatric


Level 2: Screening
Version 0.278

0 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Bartter syndrome

Green SLC12A1 in Fetal anomalies


Version 1.465

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genomics England PanelApp
  • Genetic Health Queensland
Phenotypes
  • Bartter syndrome, type 1, MIM#601678

Green SLC12A1 in Prepair 1000+


Level 2: Screening
Version 2.14

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Bartter syndrome, type 1, MIM#601678

Green SLC12A1 in Genomic newborn screening: BabyScreen+


Level 2: Screening
Version 1.140

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • BabySeq Category A gene
Phenotypes
  • Bartter syndrome, type 1, MIM# 601678
Tags
  • treatable
  • renal

Green SLC12A1 in Renal Tubulopathies and related disorders


Level 2: Renal and urinary tract disorders
Version 1.22

Component of the following Super Panels:

  • Kidneyome_SuperPanel
  • 2 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    • Expert Review Green
    • Expert list
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Bartter syndrome, type 1, OMIM #601678

    Green SLC12A1 in Prepair 500+


    Level 2: Screening
    Version 2.0

    1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Bartter syndrome, type 1, MIM#601678