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Intellectual disability syndromic and non-syndromic

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)

I don't know

Downgrade to Amber after review against GEL panel; ID not a consistent/predominant feature of Bartter syndrome.
Created: 29 Jan 2020, 10:53 a.m. | Last Modified: 29 Jan 2020, 10:53 a.m.
Panel Version: 0.1771
Some individuals with severe Bartter syndrome have been described as having intellectual disability, whereas others with milder symptoms have normal intellect.
Created: 24 Nov 2019, 2:57 a.m. | Last Modified: 24 Nov 2019, 2:57 a.m.
Panel Version: 0.5

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Bartter syndrome, type 4a, MIM#602522

Details

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

History Filter Activity

6 Dec 2019, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

6 Dec 2019, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: BSND were changed from to Bartter syndrome, type 4a, MIM#602522

6 Dec 2019, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: BSND was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

22 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: BSND was added gene: BSND was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: BSND was set to Unknown