1. Panels
  2. Renal Tubulopathies and related disorders
  3. BSND
STRs in panel
Prev Next
Regions in panel
Prev Next

Renal Tubulopathies and related disorders

Gene: BSND

Green List (high evidence)
BSND (barttin CLCNK type accessory beta subunit)
EnsemblGeneIds (GRCh38): ENSG00000162399
EnsemblGeneIds (GRCh37): ENSG00000162399
OMIM: 606412, Gene2Phenotype
BSND is in 10 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Well established gene-disease association.
Created: 8 Oct 2020, 9:23 a.m. | Last Modified: 8 Oct 2020, 9:23 a.m.
Panel Version: 0.7

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Bartter syndrome, type 4a, MIM# 602522

Publications

Created: 8 Oct 2020, 9:23 a.m.
Last Modified: 8 Oct 2020, 9:23 a.m.
Panel version: Imported from Bartter Syndrome panel version 0.7

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Bartter syndrome, type 4a, MIM# 602522
OMIM
606412
Clinvar variants
Variants in BSND
Penetrance
None
Publications
Panels with this gene

History Filter Activity

1 Dec 2022, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: BSND was added gene: BSND was added to Renal Tubulopathies and related disorders. Sources: Victorian Clinical Genetics Services,Expert Review Green Mode of inheritance for gene: BSND was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: BSND were set to 21269598; 30174009; 11687798; 12574213; 27234911 Phenotypes for gene: BSND were set to Bartter syndrome, type 4a, MIM# 602522