PanelApp
  1. Genes and Genomic Entities
  2. SCNN1B

SCNN1B

sodium channel epithelial 1 beta subunit
OMIM: 600760, Gene2Phenotype

11 panels

Panel Reviews Mode of inheritance Details
11 panels

Amber SCNN1B in Ciliary Dyskinesia


Level 2: Respiratory disorders
Version 1.63

2 reviews MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • Expert Review
Phenotypes
  • Bronchiectasis with or without elevated sweat chloride 1 (MIM#211400)

Amber SCNN1B in Interstitial Lung Disease


Level 2: Respiratory disorders
Version 1.2

3 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Expert Review
  • Victorian Clinical Genetics Services
Phenotypes
  • Bronchiectasis with or without elevated sweat chloride 1 (MIM#211400)

Green SCNN1B in Mendeliome


Version 1.3512

1 review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Liddle syndrome 1, MIM# 177200
  • Pseudohypoaldosteronism, type I, MIM# 264350
  • Bronchiectasis with or without elevated sweat chloride 1 (MIM#211400)

Green SCNN1B in Hypertension and Aldosterone disorders


Level 2: Renal and urinary tract disorders; Endocrine disorders
Version 1.16

Component of the following Super Panels:

  • Kidneyome_SuperPanel

    		•  1 review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • KidGen_AldoHypertension v38.1.0
    Phenotypes
    • Liddle syndrome 1, MIM# 177200
    • Pseudohypoaldosteronism, type I, MIM# 264350

    Red SCNN1B in Skeletal dysplasia

    Level 3: Skeletal dysplasias
    Level 2: Skeletal disorders
    Version 0.346

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

    Green SCNN1B in Mackenzie's Mission_Reproductive Carrier Screening


    Level 2: Screening
    Version 0.110

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

    Green SCNN1B in Additional findings_Paediatric


    Level 2: Screening
    Version 0.278

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • BabySeq Category C gene
    • BabySeq Category A gene
    Phenotypes
    • Pseudohypoaldosteronism, type I MIM# 264350

    Green SCNN1B in Fetal anomalies


    Version 1.465

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

    Green SCNN1B in Prepair 1000+


    Level 2: Screening
    Version 2.14

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Pseudohypoaldosteronism, type IB2, autosomal recessive, MIM#620125

    Green SCNN1B in Genomic newborn screening: BabyScreen+


    Level 2: Screening
    Version 1.140

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

    Green SCNN1B in Renal Tubulopathies and related disorders


    Level 2: Renal and urinary tract disorders
    Version 1.22

    Component of the following Super Panels:

  • Kidneyome_SuperPanel

    		•  1 review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • KidGen_AldoHypertension v38.1.0
    • Expert Review Green
    • KidGen_AldoHypertension v38.1.0
    Phenotypes
    • Pseudohypoaldosteronism, type I, MIM# 264350
    • Liddle syndrome 1, MIM# 177200