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  3. BSND
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Monogenic hearing loss

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

Jun Shen (Harvard Medical School)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
#602522:Sensorineural deafness with mild renal dysfunction[Failure to thrive; Deafness, sensorineural; Renal salt wastingInability to concentrate urinePolyuriaDecreased glomerular filtration rateRenal failure, chronicUltrasound shows hyperechoic kidneysRenal biopsy shows tubulointerstitial fibrosisGlobal glomerulosclerosisLoss of definition of corticomedullary differentiation; Hypotonia; Delayed motor developmentHyporeflexiaMental retardationMotor retardation; Hypokalemic hypochloremic metabolic alkalosis; Stimulation of the renin/angiotensin/aldosterone axisHyperaldosteronism; PolyhydramniosFetal hydropsFetal polyuria; Premature delivery; HypokalemiaHyponatremiaHypochloremiaUrinary prostaglandin EIncreased urinary sodiumIncreased urinary potassiumIncreased urinary chloride]

Publications

Created: 7 Feb 2016, 8:54 a.m.

Panel version: 0.105

Damian Smedley (Genomics England Curator)

Comment on list classification: Good evidence from OMIM and expert review
Created: 31 Jan 2016, 7:59 a.m.
Created: 31 Jan 2016, 7:59 a.m.

Panel version: 0.14

Maria Bitner-Glindzicz (UCL)

Green List (high evidence)

usually syndromic but would want to know about a Tier 1 variant in this gene
Created: 19 Oct 2015, 7:37 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Created: 19 Oct 2015, 7:37 p.m.

Panel version: 0

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert
  • Emory Genetics Laboratory
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • hearing loss
  • Bartter syndrome, type 4a, 602522
  • #602522:Sensorineural deafness with mild renal dysfunction
  • Barttersyndrome,type4a, 602522
OMIM
606412
Clinvar variants
Variants in BSND
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

17 Feb 2016, Gel status: 4

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for BSND were set to hearing loss; Bartter syndrome, type 4a, 602522; #602522:Sensorineural deafness with mild renal dysfunction; Barttersyndrome,type4a, 602522

17 Feb 2016, Gel status: 4

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for BSND were set to PMID:11687798; 11734858; 12574213; 16849430; 19646679; 9463315

1 Feb 2016, Gel status: 4

Set Mode of Inheritance

Damian Smedley (Genomics England Curator)

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

31 Jan 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).

31 Jan 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).

24 Jun 2015, Gel status: 2

Added New Source

Ellen McDonagh (Genomics England Curator)

BSND was added to Congenital hearing impairment (Profound/Severe)panel. Sources: Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory,Expert

24 Jun 2015, Gel status: 2

Added New Source

Ellen McDonagh (Genomics England Curator)

BSND was added to Congenital hearing impairment (Profound/Severe)panel. Sources: Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory,Expert

24 Jun 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

BSND was added to Congenital hearing impairment (Profound/Severe)panel. Sources: Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory,Expert