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Prepair 1000+

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

1 review

Cassandra Muller (Victorian Clinical Genetics Services)

Green List (high evidence)

Established gene-disease association. Childhood onset with potentially lethal re-hydration, impaired salt reabsorption.
Created: 7 Feb 2025, 3:31 a.m. | Last Modified: 7 Feb 2025, 3:31 a.m.
Panel Version: 1.1460

Phenotypes
Bartter syndrome, type 1, 601678 (3)

Publications

History Filter Activity

7 Feb 2025, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: slc12a1 has been classified as Green List (High Evidence).

7 Feb 2025, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: SLC12A1 were changed from Bartter syndrome, type 1, 601678 (3) to Bartter syndrome, type 1, MIM#601678

7 Feb 2025, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: SLC12A1 were set to

2 Nov 2023, Gel status: 3

Set Phenotypes

Seb Lunke (Victorian Clinical Genetics Services)

Added phenotypes Bartter syndrome, type 1, 601678 (3) for gene: SLC12A1

1 Jun 2022, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: SLC12A1 was added gene: SLC12A1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: SLC12A1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SLC12A1 were set to Bartter syndrome, type 1, 601678 (3)