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  2. Nephrocalcinosis or nephrolithiasis
  3. BSND
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Nephrocalcinosis or nephrolithiasis

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 9 panels

3 reviews

Eleanor Williams (Genomics England Curator)

Comment on mode of inheritance: AR in OMIM and Biallelic in Gene2Phenotype for Bartter syndrome, type 4a
Created: 6 Nov 2019, 5:02 p.m. | Last Modified: 6 Nov 2019, 5:02 p.m.
Panel Version: 1.45
Created: 6 Nov 2019, 5:02 p.m.
Last Modified: 6 Nov 2019, 5:02 p.m.
Panel version: 1.45

Ellen McDonagh (Genomics England Curator)

Comment on list classification: Originally an amber gene, with a green expert review and is a confirmed DD gene for Bartter syndrome Type 4A. Multiple families/cases reported in OMIM, with multiple variants associated.
Created: 9 May 2016, 10:43 a.m.
Created: 9 May 2016, 10:43 a.m.

Panel version: 0.13

Fiona Karet (Universit y of Cambridge)

Green List (high evidence)

See 'dRTA' category
Created: 29 Oct 2015, 9:10 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Type 4A Bartter syndrome

Created: 29 Oct 2015, 9:10 p.m.

Panel version: 0

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Bartter Syndrome
  • 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

6 Nov 2019, Gel status: 3

Set mode of inheritance

Eleanor Williams (Genomics England Curator)

Mode of inheritance for gene: BSND was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal

30 Jan 2019, Gel status: 3

Set Phenotypes

Eleanor Williams (Genomics England Curator)

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

9 May 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

9 May 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

28 Apr 2015, Gel status: 2

Added New Source

GEL ()

BSND was added to Renal tract calcification (or Nephrolithiasis/nephrocalcinosis)panel. Sources: Radboud University Medical Center, Nijmegen

28 Apr 2015, Gel status: 1

Added New Source

GEL ()

BSND was added to Renal tract calcification (or Nephrolithiasis/nephrocalcinosis)panel. Sources: Illumina TruGenome Clinical Sequencing Services