Deafness_IsolatedAndComplex
Gene: BSND

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

19646679

Created: 28 Sep 2020, 8:41 a.m.
Last Modified: 28 Sep 2020, 8:41 a.m.
Panel version: 0.411

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

19646679

Panels with this gene