SLC12A3

solute carrier family 12 member 3
OMIM: 600968, Gene2Phenotype

8 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 8 panels
Red SLC12A3 in Ductal plate malformation Version 1.29	review	BIALLELIC, autosomal or pseudoautosomal	Sources Radboud University Medical Center, Nijmegen, Expert list Phenotypes Gitelman syndrome, OMIM: 263800 Gitelman syndrome, MONDO:0009904 Tags monogenic-polygenic
Amber SLC12A3 in Unexplained young onset end-stage renal disease Version 3.40 Latest signed off version: v3.0 (22 Mar 2023) Component of the following Super Panels: Renal superpanel - broad	review	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Amber Phenotypes Gitelman syndrome, OMIM: 263800 Gitelman syndrome, MONDO:0009904 Tags Q4_23_promote_green
Green SLC12A3 in Undiagnosed metabolic disorders Level 3: Specific metabolic abnormalities Level 2: Metabolic disorders Version 1.617	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Gitelman syndrome, OMIM: 263800 Gitelman syndrome, MONDO:0009904 Tags monogenic-polygenic
Green SLC12A3 in Likely inborn error of metabolism - targeted testing not possible Version 4.137 Latest signed off version: v4.0 (22 Mar 2023) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders Unexplained death in infancy and sudden unexplained death in childhood	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Gitelman syndrome, OMIM: 263800 Gitelman syndrome, MONDO:0009904 Tags monogenic-polygenic
Green SLC12A3 in Renal tubulopathies Level 3: Disorders of function Level 2: Renal and urinary tract disorders Version 4.17 Latest signed off version: v4.0 (22 Mar 2023) 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 Gitelman syndrome, OMIM: 263800 Gitelman syndrome, MONDO:0009904 Tags monogenic-polygenic
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, chorea or related movement disorder Version 3.75 Latest signed off version: v3.0 (22 Mar 2023)	review	Not set	Sources Expert Review Red London North GLH Phenotypes Gitelman syndrome, OMIM: 263800 Gitelman syndrome, MONDO:0009904 Tags monogenic-polygenic
Green SLC12A3 in Severe Paediatric Disorders Version 1.184	review	BIALLELIC, autosomal or pseudoautosomal	Sources Next Generation Children Project Expert Review Green Expert list Phenotypes Gitelman syndrome, OMIM: 263800 Gitelman syndrome, MONDO:0009904 Tags monogenic-polygenic