Genomics England
GMS Panels
Panels
Genes and Entities

SLC12A3

solute carrier family 12 member 3
OMIM: 600968
PanelMode of inheritanceDetails
2 panels
Green
in Likely inborn error of metabolism - targeted testing not possible
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
  • - Unexplained death in infancy and sudden unexplained death in childhood
R-numbers: R98
Signed-off version 4.78
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Gitelman syndrome, OMIM: 263800, Gitelman syndrome, MONDO:0009904
Green
in Renal tubulopathies
R-numbers: R198
Signed-off version 4.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Hypokalaemic alkalosis with hypomagnesaemia & hypocalciuria, Gitelman syndrome, 263800