PanelApp
  1. Genes and Genomic Entities
  2. SCNN1G

SCNN1G

sodium channel epithelial 1 gamma subunit
OMIM: 600761, Gene2Phenotype

9 panels

Panel Reviews Mode of inheritance Details
9 panels

Red SCNN1G in Ciliary Dyskinesia


Level 2: Respiratory disorders
Version 1.63

2 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Expert list
Phenotypes
  • Bronchiectasis with or without elevated sweat chloride 3, MIM# 613071

Red SCNN1G in Ciliopathies


Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.94

2 reviews BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Expert Review
Phenotypes
  • Bronchiectasis with or without elevated sweat chloride 3 (MIM#613071)
  • Liddle syndrome 2 (MIM#618114)
  • Pseudohypoaldosteronism, type I (MIM#264350)

Green SCNN1G in Mendeliome


Version 1.3512

2 reviews BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review
  • Victorian Clinical Genetics Services
Phenotypes
  • Liddle syndrome 2, MIM# 618114
  • Pseudohypoaldosteronism, type I, MIM# 264350

Green SCNN1G 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 2, MIM# 618114
    • Pseudohypoaldosteronism, type I, MIM# 264350

    Red SCNN1G in Skeletal dysplasia

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

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

    Red SCNN1G in Additional findings_Paediatric


    Level 2: Screening
    Version 0.278

    		0 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • BabySeq Category C gene
    Phenotypes
    • Pseudohypoaldosteronism

    Green SCNN1G in Fetal anomalies


    Version 1.465

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

    Green SCNN1G 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
    • BeginNGS
    Phenotypes
    • Pseudohypoaldosteronism, type I, MIM# 264350
    Tags
    • treatable
    • endocrine

    Green SCNN1G 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 2, MIM# 618114