Genomics England

barttin CLCNK type accessory beta subunit

Panel	Mode of inheritance	Details
Filter panels6 panels
Green in DDG2P Component of the following Super Panels: - Paediatric disorders Signed-off version 3.1	BIALLELIC, autosomal or pseudoautosomal	Phenotypes BARTTER SYNDROME TYPE 4A 602522
Green in Fetal anomalies R-numbers: R21, R412 Signed-off version 3.0	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 4.0	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 R-numbers: R256 Signed-off version 4.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Bartter Syndrome, Bartter syndrome, type 4a, 602522, Sensorineural deafness with mild renal dysfunction, 602522
Green in Renal tubulopathies R-numbers: R198 Signed-off version 4.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Hypokalaemic alkalosis with hypercalciuria, Bartter syndrome type 4a, Sensorineural deafness with mild renal dysfunction MIM 602522
Green in Unexplained young onset end-stage renal disease R-numbers: R257 Signed-off version 3.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Bartter syndrome, type 4a, 602522, Sensorineural deafness with mild renal dysfunction, 602522