SCNN1A

sodium channel epithelial 1 alpha subunit
OMIM: 600228, Gene2Phenotype

11 panels

Panel Reviews Mode of inheritance Details
11 panels

Amber SCNN1A in Ciliary Dyskinesia


Level 2: Respiratory disorders
Version 1.47

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Expert Review
Phenotypes
  • Bronchiectasis with or without elevated sweat chloride 2 (MIM#613021)
  • MONDO:0013087

Amber SCNN1A in Interstitial Lung Disease


Level 2: Respiratory disorders
Version 1.0

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Expert Review
  • Victorian Clinical Genetics Services
Phenotypes
  • Bronchiectasis with or without elevated sweat chloride 2, MIM# 613021
  • MONDO:0013087

Green SCNN1A in Mendeliome


Version 1.2374

review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Liddle syndrome 3 618126, MIM# AD, MONDO:0029132
  • Bronchiectasis with or without elevated sweat chloride 2, MIM# 613021 AD, MONDO:0013087
  • Pseudohypoaldosteronism, type I, MIM# 264350 AR, MIM#0009917
Tags
  • treatable

Green SCNN1A in Hypertension and Aldosterone disorders


Level 2: Renal and urinary tract disorders; Endocrine disorders
Version 1.15

Component of the following Super Panels:

  • Kidneyome_SuperPanel
  • review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • KidGen_AldoHypertension v38.1.0
    Phenotypes
    • ?Liddle syndrome 3 618126 AD
    • Bronchiectasis with or without elevated sweat chloride 2 613021 AD
    • Pseudohypoaldosteronism, type I 264350 AR.

    Red SCNN1A in Skeletal dysplasia

    Level 3: Skeletal dysplasias
    Level 2: Skeletal disorders
    Version 0.305

    review Not set
    Sources
    • Expert Review Green
    • Emory Genetics Laboratory
    • Victorian Clinical Genetics Services

    Green SCNN1A in Mackenzie's Mission_Reproductive Carrier Screening


    Level 2: Screening
    Version 0.109

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Pseudohypoaldosteronism, type I, 264350 (3)

    Green SCNN1A in Additional findings_Paediatric


    Level 2: Screening
    Version 0.278

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • BabySeq Category A gene
    • Expert Review Green
    Phenotypes
    • Pseudohypoaldosteronism

    Green SCNN1A in Fetal anomalies


    Version 1.314

    review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Pseudohypoaldosteronism, type I - MIM#264350

    Green SCNN1A in Prepair 1000+


    Level 2: Screening
    Version 1.1586

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Pseudohypoaldosteronism, type I, 264350 (3)

    Green SCNN1A in BabyScreen+ newborn screening


    Level 2: Screening
    Version 1.116

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • BabySeq Category A gene
    • BeginNGS
    Phenotypes
    • Pseudohypoaldosteronism, type I, MIM# 264350
    Tags
    • treatable
    • endocrine

    Green SCNN1A in Renal Tubulopathies and related disorders


    Level 2: Renal and urinary tract disorders
    Version 1.18

    Component of the following Super Panels:

  • Kidneyome_SuperPanel
  • review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • KidGen_AldoHypertension v38.1.0
    • Expert Review Red
    • Expert Review
    Phenotypes
    • Bronchiectasis with or without elevated sweat chloride 2 613021 AD
    • Pseudohypoaldosteronism, type I 264350 AR.
    • ?Liddle syndrome 3 618126 AD