Monogenic hearing loss
Gene: BSND
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
Comment on list classification: Good evidence from OMIM and expert reviewCreated: 31 Jan 2016, 7:59 a.m.
usually syndromic but would want to know about a Tier 1 variant in this geneCreated: 19 Oct 2015, 7:37 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes for BSND were set to hearing loss; Bartter syndrome, type 4a, 602522; #602522:Sensorineural deafness with mild renal dysfunction; Barttersyndrome,type4a, 602522
Publications for BSND were set to PMID:11687798; 11734858; 12574213; 16849430; 19646679; 9463315
Mode of inheritance for BSND was changed to BIALLELIC, autosomal or pseudoautosomal
This gene has been classified as Green List (High Evidence).
This gene has been classified as Green List (High Evidence).
BSND was added to Congenital hearing impairment (Profound/Severe)panel. Sources: Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory,Expert
BSND was added to Congenital hearing impairment (Profound/Severe)panel. Sources: Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory,Expert
BSND was added to Congenital hearing impairment (Profound/Severe)panel. Sources: Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory,Expert