1. Genes and Genomic Entities
  2. SCNN1A

SCNN1A

sodium channel epithelial 1 alpha subunit
OMIM: 600228, Gene2Phenotype

10 panels

Panel Reviews Mode of inheritance Details
10 panels
Green SCNN1A in Non-CF bronchiectasis

Level 3: Respiratory ciliopathies
Level 2: Ciliopathies
Version 1.30

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Emory Genetics Laboratory
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Pseudohypoaldosteronism, type I, 264350
  • Bronchiectasis with or without elevated sweat chloride 2, 613021
  • Bronchiectasis
Red SCNN1A 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 SCNN1A in Thoracic dystrophies

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 1.20

review Not set
Sources
  • Emory Genetics Laboratory
Red SCNN1A in Primary ciliary disorders

Level 3: Respiratory ciliopathies
Level 2: Ciliopathies
Version 1.42

review Not set
Sources
  • Emory Genetics Laboratory
Phenotypes
  • ciliopathies
Green SCNN1A in Respiratory ciliopathies including non-CF bronchiectasis


Version 3.10
Latest signed off version: v3.0 (22 Mar 2023)

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Ciliopathies
  • Bronchiectasis
  • Pseudohypoaldosteronism, type I, 264350
  • Bronchiectasis with or without elevated sweat chloride 2, 613021
Red SCNN1A 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 SCNN1A 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 BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Amber
    Phenotypes
    • Pseudohypoaldosteronism, type I, 264350
    • ?Liddle syndrom 3, 618126
    • Bronchiectasis with or without elevated sweat chloride 2 613021
    Tags
    • Q4_23_promote_green
    Green SCNN1A 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 BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • NHS GMS
    Phenotypes
    • Pseudohypoaldosteronism, type I, 264350
    • ?Liddle syndrom 3, 618126
    • Bronchiectasis with or without elevated sweat chloride 2 613021
    Red SCNN1A 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 SCNN1A 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
    • Bronchiectasis with or without elevated sweat chloride 2, 613021
    • ?Liddle syndrome 3, 618126
    • Pseudohypoaldosteronism, type I, 264350