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Unexplained paediatric onset end-stage renal disease

Gene: BSND

Green List (high evidence)

BSND (barttin CLCNK type accessory beta subunit)
EnsemblGeneIds (GRCh38): ENSG00000162399
EnsemblGeneIds (GRCh37): ENSG00000162399
OMIM: 606412, Gene2Phenotype
BSND is in 11 panels

4 reviews

Eleanor Williams (Genomics England Curator)

I don't know

Comment on publications: Publication taken from the Renal tubulopathies panel
Created: 9 Apr 2019, 1:30 p.m.
Comment on list classification: Changed rating from Red to Green as this gene is Green on the Renal tubulopathies (Version 1.21) panel.
Created: 9 Apr 2019, 1:20 p.m.
Gene imported from the 'Renal and urinary tract disorders' panel v1.8 with a rating of Red
Created: 9 Apr 2019, 11:17 a.m.

Bill Newman (Manchester Centre for Genomic Medicine)

Red List (low evidence)

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.

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

Details

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

History Filter Activity

11 Feb 2021, Gel status: 3

Clear Sources

Arina Puzriakova (Genomics England Curator)

Source: Expert Review Red was removed from gene: BSND

9 Apr 2019, Gel status: 3

Set publications

Eleanor Williams (Genomics England Curator)

Publications for gene: BSND were set to

9 Apr 2019, Gel status: 3

Entity classified by Genomics England curator

Eleanor Williams (Genomics England Curator)

Gene: bsnd has been classified as Green List (High Evidence).

9 Apr 2019, Gel status: 1

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

Eleanor Williams (Genomics England Curator)

gene: BSND was added gene: BSND was added to Unexplained paediatric onset end-stage renal disease. 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, 602522; Sensorineural deafness with mild renal dysfunction, 602522