1. Genes and Genomic Entities
  2. SCNN1B

SCNN1B

sodium channel epithelial 1 beta subunit
OMIM: 600760, Gene2Phenotype

10 panels

Panel Reviews Mode of inheritance Details
10 panels
Green SCNN1B in Non-CF bronchiectasis

Level 3: Respiratory ciliopathies
Level 2: Ciliopathies
Version 1.32

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 1.23

review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • 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 1.32

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 1.24

review Not set
Sources
  • Emory Genetics Laboratory
Red SCNN1B in Primary ciliary disorders

Level 3: Respiratory ciliopathies
Level 2: Ciliopathies
Version 1.56

review Not set
Sources
  • Emory Genetics Laboratory
Phenotypes
  • ciliopathies
Green SCNN1B in Respiratory ciliopathies including non-CF bronchiectasis


Level 2: Respiratory
Version 4.55
Latest signed off version: v4.0 (30 Apr 2025)

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 2: Musculoskeletal
Version 8.38
Latest signed off version: v8.0 (30 Apr 2025)

Component of the following Super Panels:

  • Paediatric disorders

    		•  review Not set
    Sources
    • Emory Genetics Laboratory
    Amber SCNN1B in Fetal anomalies


    Level 2: Fetal (including NIPD)
    Version 6.181
    Latest signed off version: v6.0 (30 Apr 2025)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Amber
    Phenotypes
    • Pseudohypoaldosteronism, type I, OMIM:264350
    Green SCNN1B in Renal tubulopathies


    Level 2: Renal
    Version 5.11
    Latest signed off version: v5.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Unexplained young onset end-stage renal disease

    		•  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 1.180

    		review Not set
    Sources
    • Expert Review Red
    • Emory Genetics Laboratory
    Phenotypes
    • Ciliopathies