Nephrocalcinosis or nephrolithiasis
Gene: BSNDComment on mode of inheritance: AR in OMIM and Biallelic in Gene2Phenotype for Bartter syndrome, type 4aCreated: 6 Nov 2019, 5:02 p.m. | Last Modified: 6 Nov 2019, 5:02 p.m.
Panel Version: 1.45
Comment on list classification: Originally an amber gene, with a green expert review and is a confirmed DD gene for Bartter syndrome Type 4A. Multiple families/cases reported in OMIM, with multiple variants associated.Created: 9 May 2016, 10:43 a.m.
See 'dRTA' categoryCreated: 29 Oct 2015, 9:10 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Type 4A Bartter syndrome
Mode of inheritance for gene: BSND was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: BSND were changed from Bartter Syndrome; Bartter syndrome, type 4a, 602522Sensorineural deafness with mild renal dysfunction, 602522 to Bartter Syndrome; Bartter syndrome, type 4a, 602522; Sensorineural deafness with mild renal dysfunction, 602522
This gene has been classified as Green List (High Evidence).
This gene has been classified as Green List (High Evidence).
BSND was added to Renal tract calcification (or Nephrolithiasis/nephrocalcinosis)panel. Sources: Radboud University Medical Center, Nijmegen
BSND was added to Renal tract calcification (or Nephrolithiasis/nephrocalcinosis)panel. Sources: Illumina TruGenome Clinical Sequencing Services