Genomics England
GMS Panels
Panels
Genes and Entities

SLC12A1

solute carrier family 12 member 1
OMIM: 600839
PanelMode of inheritanceDetails
3 panels
Green
in Fetal anomalies
R-numbers: R21
Signed-off version 1.92
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Bartter syndrome, type 1 601678
Green
in Nephrocalcinosis or nephrolithiasis
R-numbers: R256
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Type 1 Bartter syndrome: infantile onset, pregnancy noted for polyhydramnios, Hyperprostagladinuria, Hypokalaemia and metabolic alkalosis +/- nephrocalcinosis, Antenatal Bartter Syndrome, Bartter syndrome, type 1, 601678
Green
in Renal tubulopathies
R-numbers: R198
Signed-off version 2.23
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Type 1 Bartter syndrome: infantile onset, pregnancy noted for polyhydramnios. Hyperprostagladinuria. Hypokalaemia and metabolic alkalosis +/- nephrocalcinosis, Bartter syndrome, type 1, 601678