Renal tubulopathies

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 12 panels

3 reviews

Eleanor Williams (Genomics England Curator)

Green List (high evidence)

This gene was part of an initial gene list collated by Emma Ashton (NE Thames Regional Genetics laboratory, GOSH NHS Foundation Trust) January 2019 on behalf of the GMS Renal Specialist Test Group; Gene Symbol submitted: BSND; Suggested initial gene rating: green; Evidence for inclusion: none provided; Evidence for exclusion: none provided; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none provided
Created: 3 Feb 2019, 11:32 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Bartter syndrome type 4a; Sensorineural deafness with mild renal dysfunction MIM 602522

Variants in this GENE are reported as part of current diagnostic practice

Damian Smedley (Genomics England Curator)

Comment when marking as ready: Known expert and in Eligibility statement prior genetic testing
Created: 10 May 2016, 11:03 a.m.

Fiona Karet (Universit y of Cambridge)

Green List (high evidence)

Metabolic alklaosis, not RTA
Created: 28 Oct 2015, 9:42 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Bartter syndrome with SNHL and CKD

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
  • Eligibility statement prior genetic testing
Phenotypes
  • Hypokalaemic alkalosis with hypercalciuria
  • Bartter syndrome type 4a
  • Sensorineural deafness with mild renal dysfunction MIM 602522
OMIM
606412
Clinvar variants
Variants in BSND
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

9 Apr 2019, Gel status: 4

Set Phenotypes

Eleanor Williams (Genomics England Curator)

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

3 Feb 2019, Gel status: 3

Added New Source, Status Update

Eleanor Williams (Genomics England Curator)

Source NHS GMS was added to BSND. Rating Changed from Green List (high evidence) to Green List (high evidence)

10 May 2016, Gel status: 4

Gene classified by Genomics England curator

Damian Smedley (Genomics England Curator)

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

10 May 2016, Gel status: 1

Gene classified by Genomics England curator

Damian Smedley (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

10 May 2016, Gel status: 0

Set publications

Damian Smedley (Genomics England Curator)

Publications for BSND were set to 11687798

10 May 2016, Gel status: 0

Set Mode of Inheritance

Damian Smedley (Genomics England Curator)

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

12 Aug 2015, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

BSND was added to Renal tubular acidosispanel. Sources: Eligibility statement prior genetic testing