1. Panels
  2. Renal and urinary tract disorders
  3. BSND
STRs in panel
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Renal and urinary tract disorders

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

3 reviews

Bill Newman (Manchester Centre for Genomic Medicine)

Red List (low evidence)

Created: 5 Nov 2017, 2:37 a.m.

Panel version: Imported from CAKUT panel version 0

Ellen McDonagh (Genomics England Curator)

Comment on list classification: Should remain on the red list at the present time due to conflicting reviews.
Created: 29 Mar 2016, 10:39 a.m.
Created: 29 Mar 2016, 10:39 a.m.

Panel version: Imported from CAKUT panel version 0.31

Helen Stuart (University of Manchester)

Green List (high evidence)

This is a causes a Bartter syndrome renal phenotype not CAKUT
Created: 18 Oct 2015, 7:39 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Created: 18 Oct 2015, 7:39 p.m.

Panel version: Imported from CAKUT panel version 0

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • Bartter syndrome, type 4a, 602522
  • Sensorineural deafness with mild renal dysfunction, 602522
OMIM
606412
Clinvar variants
Variants in BSND
Penetrance
None
Panels with this gene

History Filter Activity

30 Jan 2019, Gel status: 1

Panel promoted to version 1.0

Eleanor Williams (Genomics England Curator)

Helen Stuart: This is a causes a Bartter syn

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

20 Dec 2018, Gel status: 1

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Added phenotypes Bartter syndrome, type 4a, 602522Sensorineural deafness with mild renal dysfunction, 602522 for gene: BSND

20 Dec 2018, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Ellen McDonagh (Genomics England Curator)

gene: BSND was added gene: BSND was added to Renal and urinary tract disorders. Sources: Expert Review Red Mode of inheritance for gene: BSND was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: BSND were set to Bartter syndrome, type 4a, 602522Sensorineural deafness with mild renal dysfunction, 602522