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  2. Unexplained kidney failure in young people
  3. BSND
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Unexplained kidney failure in young people

Gene: BSND

Red List (low evidence)
BSND (barttin CLCNK type accessory beta subunit)
EnsemblGeneIds (GRCh38): ENSG00000162399
EnsemblGeneIds (GRCh37): ENSG00000162399
OMIM: 606412, Gene2Phenotype
BSND is in 9 panels

0 reviews

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Radboud University Medical Center, Nijmegen
  • Expert Review Red
Phenotypes
  • Bartter syndrome, type 4a, 602522
  • Sensorineural deafness with mild renal dysfunction, 602522
OMIM
606412
Clinvar variants
Variants in BSND
Penetrance
Complete
Panels with this gene

History Filter Activity

30 Jan 2019, Gel status: 1

Set Phenotypes

Eleanor Williams (Genomics England Curator)

Phenotypes for gene: BSND were changed from Bartter syndrome, type 4a, 602522Sensorineural deafness with mild renal dysfunction, 602522 to Bartter syndrome, type 4a, 602522; Sensorineural deafness with mild renal dysfunction, 602522

17 Aug 2016, Gel status: 1

panel promoted to version 1

Sarah Leigh (Genomics England Curator)

Promoted to version 1 17th August 2016

18 May 2016, Gel status: 1

Added New Source

Sarah Leigh (Genomics England Curator)

BSND was added to Unexplained kidney failure in young peoplepanel. Sources: Radboud University Medical Center, Nijmegen,,Expert Review Red

18 May 2016, Gel status: 0

Created

Sarah Leigh (Genomics England Curator)

BSND was created by sleigh