BSND

barttin CLCNK type accessory beta subunit
OMIM: 606412, ClinGen, DECIPHER

10 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 10 panels
Green BSND in Mendeliome Version 1.3795	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 1.304	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 1.507	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 0.111	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 1.482	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 2.15	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 1.141	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