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| Renal tubulopathies v1.22 | BSND | Eleanor Williams 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 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Renal tubulopathies v1.16 | BSND | Eleanor Williams reviewed gene: BSND: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Bartter syndrome type 4a, Sensorineural deafness with mild renal dysfunction MIM 602522; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Renal tubulopathies v1.15 | BSND |
Eleanor Williams Source NHS GMS was added to BSND. Rating Changed from Green List (high evidence) to Green List (high evidence) |
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