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Deafness_IsolatedAndComplex

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 10 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Deafness is sometimes reported in Bartter syndrome. Variants in this gene also identified in consanguineous families presenting with apparently isolated deafness in PMID 19646679 and harbouring the same founder variant, p.Ile12Thr; however mild renal dysfunction identified. These are unlikely to represent a continuum rather than separate disorders.
Created: 28 Sep 2020, 8:41 a.m. | Last Modified: 28 Sep 2020, 8:41 a.m.
Panel Version: 0.411

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Deafness Flagship
  • Victorian Clinical Genetics Services
Phenotypes
  • Sensorineural deafness with mild renal dysfunction, MIM# 602522
  • Bartter syndrome, type 4a, MIM# 602522
OMIM
606412
Clinvar variants
Variants in BSND
Penetrance
None
Publications
Panels with this gene

History Filter Activity

28 Sep 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

28 Sep 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

28 Sep 2020, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: BSND were set to

28 Sep 2020, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: BSND was added gene: BSND was added to Deafness_MelbourneGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Deafness Flagship Mode of inheritance for gene: BSND was set to Unknown