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Mendeliome

Gene: SLC12A3

Green List (high evidence)

SLC12A3 (solute carrier family 12 member 3)
EnsemblGeneIds (GRCh38): ENSG00000070915
EnsemblGeneIds (GRCh37): ENSG00000070915
OMIM: 600968, Gene2Phenotype
SLC12A3 is in 6 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Gitelman syndrome is an autosomal recessive renal tubular salt-wasting disorder characterized by hypokalemic metabolic alkalosis with hypomagnesemia and hypocalciuria. It is the most common renal tubular disorder among Caucasians (prevalence of 1 in 40,000). Most individuals have onset of symptoms as adults, but some can present in childhood. Clinical features include transient periods of muscle weakness and tetany, abdominal pains, and chondrocalcinosis. Well established gene-disease association.
Created: 21 Apr 2022, 9:36 p.m. | Last Modified: 21 Apr 2022, 9:36 p.m.
Panel Version: 0.13154

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Gitelman syndrome, MIM# 263800

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Gitelman syndrome, MIM# 263800
OMIM
600968
Clinvar variants
Variants in SLC12A3
Penetrance
None
Publications
Panels with this gene

History Filter Activity

21 Apr 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: slc12a3 has been classified as Green List (High Evidence).

21 Apr 2022, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: SLC12A3 were changed from to Gitelman syndrome, MIM# 263800

21 Apr 2022, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: SLC12A3 were set to

21 Apr 2022, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: SLC12A3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: SLC12A3 was added gene: SLC12A3 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: SLC12A3 was set to Unknown