Genomics England
GMS Panels
Panels
Genes and Entities

SLC12A3

solute carrier family 12 member 3
OMIM: 600968
PanelMode of inheritanceDetails
2 panels
Green
in Inborn errors of metabolism
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R98
Signed-off version 2.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Gitelman syndrome (Disorder of magnesium metabolism), Renal tubular acidosis
Green
in Renal tubulopathies
R-numbers: R198
Signed-off version 2.23
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Hypokalaemic alkalosis with hypomagnesaemia & hypocalciuria, Gitelman syndrome, 263800