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  2. Ductal plate malformation
  3. BSND
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Ductal plate malformation

Gene: BSND

Red List (low evidence)
BSND (barttin CLCNK type accessory beta subunit)
EnsemblGeneIds (GRCh38): ENSG00000162399
EnsemblGeneIds (GRCh37): ENSG00000162399
OMIM: 606412, Gene2Phenotype
BSND is in 9 panels

1 review

Ivone Leong (Genomics England Curator)

Red List (low evidence)

Demoted from amber to red as insufficient evidence
Created: 12 Nov 2018, 1:55 p.m.
Created: 12 Nov 2018, 1:55 p.m.

Panel version: 0.26

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
  • Expert list
Phenotypes
  • Bartter syndrome, type 4a (602522)
  • Sensorineural deafness with mild renal dysfunction (602522)
OMIM
606412
Clinvar variants
Variants in BSND
Penetrance
None
Panels with this gene

History Filter Activity

30 Nov 2018, Gel status: 1

Panel promoted to version 1.0

Ellen McDonagh (Genomics England Curator)

Ivone Leong: Demoted from amber to red as i

12 Nov 2018, Gel status: 1

Added New Source, Status Update

Ivone Leong (Genomics England Curator)

Source Expert Review Red was added to BSND. Rating Changed from Amber List (moderate evidence) to Red List (low evidence)

12 Nov 2018, Gel status: 2

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

Ivone Leong (Genomics England Curator)

gene: BSND was added gene: BSND was added to Ductal plate malformation (DPM). Sources: Expert list,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen 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); Sensorineural deafness with mild renal dysfunction (602522)