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  2. Renal Tubulopathies and related disorders
  3. SLC12A1
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Renal Tubulopathies and related disorders

Gene: SLC12A1

Green List (high evidence)
SLC12A1 (solute carrier family 12 member 1)
EnsemblGeneIds (GRCh38): ENSG00000074803
EnsemblGeneIds (GRCh37): ENSG00000074803
OMIM: 600839, Gene2Phenotype
SLC12A1 is in 10 panels

2 reviews

Chirag Patel (Genetic Health Queensland)

Green List (high evidence)

Hypercalciuria and hypercalcemia seen in patients.
Sources: Expert list
Created: 28 Nov 2022, 9:49 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Bartter syndrome, type 1, OMIM #601678

Publications

Created: 28 Nov 2022, 9:49 p.m.

Panel version: Imported from Calcium and Phosphate disorders panel version 0.68

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Well established gene-disease association. Antenatal presentation with polyhydramnios is common.
Created: 21 Apr 2022, 9:09 p.m. | Last Modified: 21 Apr 2022, 9:09 p.m.
Panel Version: 0.17

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Bartter syndrome, type 1, MIM# 601678

Publications

Created: 21 Apr 2022, 9:09 p.m.
Last Modified: 21 Apr 2022, 9:09 p.m.
Panel version: Imported from Bartter Syndrome panel version 0.17

Details

Mode of Inheritance
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
OMIM
600839
Clinvar variants
Variants in SLC12A1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

1 Dec 2022, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: SLC12A1 was added gene: SLC12A1 was added to Renal Tubulopathies and related disorders. Sources: Expert list,Expert Review Green Mode of inheritance for gene: SLC12A1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC12A1 were set to 8640224, 9355073, 28095294 Phenotypes for gene: SLC12A1 were set to Bartter syndrome, type 1, OMIM #601678