SCNN1B

sodium channel epithelial 1 beta subunit
OMIM: 600760, Gene2Phenotype

11 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 11 panels
Green SCNN1B in Non-CF bronchiectasis Level 3: Respiratory ciliopathies Level 2: Ciliopathies Version 1.30	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Emory Genetics Laboratory Radboud University Medical Center, Nijmegen Illumina TruGenome Clinical Sequencing Services Phenotypes Non-Classic Cystic Fibrosis-Like Syndrome Liddle syndrome, 177200Pseudohypoaldosteronism, type I, 264350 Bronchiectasis with or without elevated sweat chloride 1, 211400 Bronchiectasis
Green SCNN1B in Extreme early-onset hypertension Level 3: Disorders of function Level 2: Renal and urinary tract disorders Version 1.21 Component of the following Super Panels: Renal superpanel - broad	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green UKGTN Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen Expert Phenotypes Bronchiectasis with or without elevated sweat chloride 1 211400 Liddle syndrome, 177200 Pseudohypoaldosteronism, type I, 264350
Red SCNN1B in Familial pulmonary fibrosis Level 3: Interstitial lung disorders Level 2: Respiratory disorders Version 1.31	review	Not set	Sources Expert Review Red Emory Genetics Laboratory Phenotypes Pulmonary Disease
Red SCNN1B in Thoracic dystrophies Level 3: Skeletal dysplasias Level 2: Skeletal disorders Version 1.20	review	Not set	Sources Emory Genetics Laboratory
Red SCNN1B in Primary ciliary disorders Level 3: Respiratory ciliopathies Level 2: Ciliopathies Version 1.42	review	Not set	Sources Emory Genetics Laboratory Phenotypes ciliopathies
Green SCNN1B in Respiratory ciliopathies including non-CF bronchiectasis Version 3.10 Latest signed off version: v3.0 (22 Mar 2023)	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Ciliopathies Non-Classic Cystic Fibrosis-Like Syndrome Pseudohypoaldosteronism, type I, 264350 Liddle syndrome, 177200 Bronchiectasis with or without elevated sweat chloride 1, 211400 Bronchiectasis
Red SCNN1B in Skeletal dysplasia Level 3: Skeletal dysplasias Level 2: Skeletal disorders Version 4.56 Latest signed off version: v4.0 (22 Mar 2023) Component of the following Super Panels: Paediatric disorders	review	Not set	Sources Emory Genetics Laboratory
Amber SCNN1B in Unexplained young onset end-stage renal disease Version 3.40 Latest signed off version: v3.0 (22 Mar 2023) Component of the following Super Panels: Renal superpanel - broad	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Amber Phenotypes Pseudohypoaldosteronism, type I, 264350 Tags Q4_23_promote_green
Green SCNN1B in Renal tubulopathies Level 3: Disorders of function Level 2: Renal and urinary tract disorders Version 4.17 Latest signed off version: v4.0 (22 Mar 2023) Component of the following Super Panels: Renal superpanel - broad Renal superpanel - narrow	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Eligibility statement prior genetic testing Phenotypes Pseudohypoaldosteronism, type I, 264350
Red SCNN1B in Rare multisystem ciliopathy disorders Level 3: Congenital malformations caused by ciliopathies Level 2: Ciliopathies Version 1.170	review	Not set	Sources Expert Review Red Emory Genetics Laboratory Phenotypes Ciliopathies
Green SCNN1B in Severe Paediatric Disorders Version 1.184	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Next Generation Children Project Expert Review Green Expert list Phenotypes Liddle syndrome 1, 177200 Bronchiectasis with or without elevated sweat chloride 1, 211400 Pseudohypoaldosteronism, type I, 264350