Ciliary Dyskinesia

Gene: SCNN1G

Red List (low evidence)

SCNN1G (sodium channel epithelial 1 gamma subunit)
EnsemblGeneIds (GRCh38): ENSG00000166828
EnsemblGeneIds (GRCh37): ENSG00000166828
OMIM: 600761, Gene2Phenotype
SCNN1G is in 9 panels

2 reviews

Jonathon Bradshaw (Victorian Clinical Genetics Services)

Red List (low evidence)

Context: The Epithelial sodium channel (ENaC) is a heterotrimer composed of 3 subunits coded by the SCNN1A, SCNN1B, SCNN1G, and SCNN1D genes.

Bush, A and Floto, R. (2019): The classical single gene disorder is α-1 antitrypsin deficiency (MIM#613490), which also causes liver disease. ENaC mutations, especially in-trans with a CFTR mutation, are thought to be risk factors for bronchiectasis, rather than actually causative. However, bronchiectasis is likely to be a very complex disease, of heterogeneous etiology, and genetic studies are likely to approach the complexity of those of asthma, rather than the classic single gene disorders such as CF.

Fajac, I. et al. (2008): Identified 3 idiopathic bronchiectasis affected individuals without CFTR variants. They found 2 variants - one of which is reported ten times as B/LB in ClinVar, and the other is reported nine times as B/LB in ClinVar.

Guan, W. et al. (2018): NGS screening study. 192 bronchiectasis patients and 100 healthy subjects. 32 genes thought to be clinically relevant were screened. No SCNN1G variants were detected in healthy or affected groups. 6 affected individuals had variants in SCNN1A and SCNN1B.
Created: 20 Aug 2024, 6:35 a.m. | Last Modified: 20 Aug 2024, 6:35 a.m.
Panel Version: 1.39

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Bronchiectasis with or without elevated sweat chloride 3, MIM# 613071

Publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Phenotypic overlap with PCD.
Sources: Expert list
Created: 6 May 2020, 10:24 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Bronchiectasis with or without elevated sweat chloride 3, MIM# 613071

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Expert list
Phenotypes
  • Bronchiectasis with or without elevated sweat chloride 3, MIM# 613071
OMIM
600761
Clinvar variants
Variants in SCNN1G
Penetrance
None
Publications
Panels with this gene

History Filter Activity

3 Mar 2025, Gel status: 1

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: SCNN1G were set to

3 Mar 2025, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: scnn1g has been classified as Red List (Low Evidence).

6 May 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: scnn1g has been classified as Green List (High Evidence).

6 May 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: scnn1g has been classified as Green List (High Evidence).

6 May 2020, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: SCNN1G was added gene: SCNN1G was added to Ciliary Dyskinesia. Sources: Expert list Mode of inheritance for gene: SCNN1G was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: SCNN1G were set to Bronchiectasis with or without elevated sweat chloride 3, MIM# 613071 Review for gene: SCNN1G was set to GREEN