Renal tubulopathies
Gene: BSND
This gene was part of an initial gene list collated by Emma Ashton (NE Thames Regional Genetics laboratory, GOSH NHS Foundation Trust) January 2019 on behalf of the GMS Renal Specialist Test Group; Gene Symbol submitted: BSND; Suggested initial gene rating: green; Evidence for inclusion: none provided; Evidence for exclusion: none provided; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none providedCreated: 3 Feb 2019, 11:32 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Bartter syndrome type 4a; Sensorineural deafness with mild renal dysfunction MIM 602522
Variants in this GENE are reported as part of current diagnostic practice
Comment when marking as ready: Known expert and in Eligibility statement prior genetic testingCreated: 10 May 2016, 11:03 a.m.
Metabolic alklaosis, not RTACreated: 28 Oct 2015, 9:42 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Bartter syndrome with SNHL and CKD
Publications
Phenotypes for gene: BSND were changed from Hypokalaemic alkalosis with hypercalciuria to Hypokalaemic alkalosis with hypercalciuria; Bartter syndrome type 4a; Sensorineural deafness with mild renal dysfunction MIM 602522
Source NHS GMS was added to BSND. Rating Changed from Green List (high evidence) to Green List (high evidence)
This gene has been classified as Green List (High Evidence).
This gene has been classified as Red List (Low Evidence).
Publications for BSND were set to 11687798
Mode of inheritance for BSND was changed to BIALLELIC, autosomal or pseudoautosomal
BSND was added to Renal tubular acidosispanel. Sources: Eligibility statement prior genetic testing