PanelApp
  1. Genes and Genomic Entities
  2. BSND

BSND

barttin CLCNK type accessory beta subunit
OMIM: 606412, Gene2Phenotype

10 panels

Panel Reviews Mode of inheritance Details
10 panels

Green BSND in Mendeliome


Version 1.3512

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • Victorian Clinical Genetics Services
Phenotypes
  • Bartter syndrome, type 4a, MIM#602522

Green BSND in Deafness_IsolatedAndComplex


Level 2: Hearing and ear disorders
Version 1.238

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Deafness Flagship
  • Victorian Clinical Genetics Services
Phenotypes
  • Sensorineural deafness with mild renal dysfunction, MIM# 602522
  • Bartter syndrome, type 4a, MIM# 602522

Green BSND in Intellectual disability syndromic and non-syndromic


Level 2: Neurology and neurodevelopmental disorders
Version 1.410

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genetic Health Queensland
Phenotypes
  • Bartter syndrome, type 4a, MIM#602522

Green BSND in Mackenzie's Mission_Reproductive Carrier Screening


Level 2: Screening
Version 0.110

0 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Bartter syndrome, type 4a, 602522 (3)

Green BSND in Additional findings_Paediatric


Level 2: Screening
Version 0.278

0 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Bartter syndrome with sensorineural deafness

Green BSND in Fetal anomalies


Version 1.465

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genomics England PanelApp
  • Genetic Health Queensland
Phenotypes
  • Bartter syndrome, type 4a, MIM#602522

Green BSND in Prepair 1000+


Level 2: Screening
Version 2.14

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Bartter syndrome, type 4a, 602522 (3)

Green BSND in Genomic newborn screening: BabyScreen+


Level 2: Screening
Version 1.140

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • BabySeq Category A gene
Phenotypes
  • Bartter syndrome, type 4a, MIM# 602522
Tags
  • treatable
  • renal

Green BSND in Renal Tubulopathies and related disorders


Level 2: Renal and urinary tract disorders
Version 1.22

Component of the following Super Panels:

  • Kidneyome_SuperPanel

    		•  1 review 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

    Green BSND in Prepair 500+


    Level 2: Screening
    Version 2.0

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Bartter syndrome, type 4a MIM#602522