SCNN1G

sodium channel epithelial 1 gamma subunit
OMIM: 600761, Gene2Phenotype

9 panels

Panel Reviews Mode of inheritance Details
9 panels

Green SCNN1G in Non-CF bronchiectasis

Level 3: Respiratory ciliopathies
Level 2: Ciliopathies
Version 1.26

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Emory Genetics Laboratory
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Liddle syndrome, 177200
  • Pseudohypoaldosteronism, type I, 264350
  • Bronchiectasis with or without elevated sweat chloride 3, 613071
  • Bronchiectasis

Green SCNN1G in Extreme early-onset hypertension

Level 3: Disorders of function
Level 2: Renal and urinary tract disorders
Version 1.14

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 3, 613071
    • Liddle syndrome, 177200
    • Pseudohypoaldosteronism, type I, 264350

    Red SCNN1G in Familial pulmonary fibrosis

    Level 3: Interstitial lung disorders
    Level 2: Respiratory disorders
    Version 1.16

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

    Red SCNN1G in Thoracic dystrophies

    Level 3: Skeletal dysplasias
    Level 2: Skeletal disorders
    Version 1.12

    review Not set
    Sources
    • Emory Genetics Laboratory

    Red SCNN1G in Primary ciliary disorders

    Level 3: Respiratory ciliopathies
    Level 2: Ciliopathies
    Version 1.32

    review Not set
    Sources
    • Emory Genetics Laboratory
    Phenotypes
    • ciliopathies

    Green SCNN1G in Respiratory ciliopathies including non-CF bronchiectasis


    Version 1.45
    Latest signed off version: v1.3 (2 Mar 2020)

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • NHS GMS
    Phenotypes
    • Liddle syndrome, 177200
    • Ciliopathies
    • Bronchiectasis
    • Bronchiectasis with or without elevated sweat chloride 3, 613071
    • Pseudohypoaldosteronism, type I, 264350

    Red SCNN1G in Skeletal dysplasia

    Level 3: Skeletal dysplasias
    Level 2: Skeletal disorders
    Version 2.119
    Latest signed off version: v2.2 (13 Feb 2020)

    Component of the following Super Panels:

  • Paediatric disorders
  • review Not set
    Sources
    • Emory Genetics Laboratory

    Green SCNN1G in Renal tubulopathies

    Level 3: Disorders of function
    Level 2: Renal and urinary tract disorders
    Version 2.27
    Latest signed off version: v2.23 (16 Oct 2020)

    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
    Phenotypes
    • Pseudohypoaldosteronism, type I, 264350

    Red SCNN1G in Rare multisystem ciliopathy disorders

    Level 3: Congenital malformations caused by ciliopathies
    Level 2: Ciliopathies
    Version 1.146

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