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, R412
Signed-off version 4.195
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Bartter syndrome, type 1, OMIM:601678, Bartter disease type 1, MONDO:0100344
Green
in Nephrocalcinosis or nephrolithiasis
Component of the following Super Panels:
  • - Unexplained young onset end-stage renal disease
R-numbers: R256
Signed-off version 4.16
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Bartter syndrome, type 1, OMIM:601678, Bartter disease type 1, MONDO:0100344
Green
in Renal tubulopathies
Component of the following Super Panels:
  • - Unexplained young onset end-stage renal disease
R-numbers: R198
Signed-off version 4.18
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Bartter syndrome, type 1, OMIM:601678, Bartter disease type 1, MONDO:0100344