CAKUT
Gene: BSND

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: 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: 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: 0

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Red
Radboud University Medical Center, Nijmegen

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

29 Mar 2016, Gel status: 1