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Prepair 1000+

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

Lilian Downie (Victorian Clinical Genetics Services)

Green List (high evidence)

Well established gene-disease association. Renal phenotype +/- SNHL

Typically antenatal onset, although milder presentations reported.

Treatment: potassium and sodium chloride. Indomethacin has limited effects.

Confirmatory non-genetic tests: serum electrolytes, plasma renin and aldosterone, fractional excretion of sodium, potassium and chloride
Created: 12 Dec 2024, 2:25 a.m. | Last Modified: 12 Dec 2024, 2:25 a.m.
Panel Version: 1.702

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Bartter syndrome, type 4a MIM#602522

Publications

Details

History Filter Activity

12 Dec 2024, Gel status: 3

Entity classified by Genomics England curator

Lilian Downie (Victorian Clinical Genetics Services)

Gene: bsnd has been classified as Green List (High Evidence).

12 Dec 2024, Gel status: 3

Set publications

Lilian Downie (Victorian Clinical Genetics Services)

Publications for gene: BSND were set to

2 Nov 2023, Gel status: 3

Set Phenotypes

Seb Lunke (Victorian Clinical Genetics Services)

Added phenotypes Bartter syndrome, type 4a, 602522 (3) for gene: BSND

1 Jun 2022, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: BSND was added gene: BSND was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: BSND was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: BSND were set to Bartter syndrome, type 4a, 602522 (3)