Genomics England
GMS Panels
Panels
Genes and Entities

BSND

barttin CLCNK type accessory beta subunit
OMIM: 606412
PanelMode of inheritanceDetails
5 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 5.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
BARTTER SYNDROME TYPE 4A 602522
Green
in Fetal anomalies
R-numbers: R21, R412
Signed-off version 5.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
BARTTER SYNDROME TYPE 4A
Green
in Monogenic hearing loss
Component of the following Super Panels:
  • - Paediatric disorders
R-numbers: R67
Signed-off version 4.57
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
hearing loss, Bartter syndrome, type 4a, 602522, #602522:Sensorineural deafness with mild renal dysfunction, Barttersyndrome,type4a, 602522
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, Bartter syndrome, type 4a, 602522, Sensorineural deafness with mild renal dysfunction, 602522
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
Hypokalaemic alkalosis with hypercalciuria, Bartter syndrome type 4a, Sensorineural deafness with mild renal dysfunction MIM 602522