Deafness_IsolatedAndComplex
Gene: BSND
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
Gene: bsnd has been classified as Green List (High Evidence).
Phenotypes for gene: BSND were changed from to Sensorineural deafness with mild renal dysfunction, MIM# 602522; Bartter syndrome, type 4a, MIM# 602522
Publications for gene: BSND were set to
Mode of inheritance for gene: BSND was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
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