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  3. SCNN1B
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Respiratory ciliopathies including non-CF bronchiectasis

Gene: SCNN1B

Green List (high evidence)
SCNN1B (sodium channel epithelial 1 beta subunit)
EnsemblGeneIds (GRCh38): ENSG00000168447
EnsemblGeneIds (GRCh37): ENSG00000168447
OMIM: 600760, Gene2Phenotype
SCNN1B is in 10 panels

5 reviews

Louise Daugherty (Genomics England Curator)

Green List (high evidence)

Initial gene list and info collated by Ian Berry Leeds Genetics Laboratory November 2018 on behalf of the GMS Respiratory specialist test group. Gene Symbol submitted: SCNN1B; Suggested initial gene rating: Green; Evidence for inclusion: OMIM bronchiectasis gene; Evidence for exclusion: none given; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none given
Created: 5 Dec 2018, 1:54 p.m.
Created: 5 Dec 2018, 1:54 p.m.

Panel version: 0.2

Ellen McDonagh (Genomics England Curator)

Comment on mode of inheritance: Compound heterozygous and heterozygous cases reported in OMIM.
Created: 3 May 2016, 3:11 p.m.
Comment on list classification: Currently a green gene, with a green expert review, and more than 3 cases reported in OMIM.
Created: 3 May 2016, 3:11 p.m.
Created: 3 May 2016, 3:11 p.m.

Panel version: Imported from Non-CF bronchiectasis panel version 0.2

Ian Berry (Leeds Genetics Laboratory)

Red List (low evidence)

Gene should be deleted - causes a primary ciliopathy;PCD is a motile ciliopathy, likely unrelated at a functional level.
Created: 8 Dec 2015, 5:33 p.m.

Phenotypes
ciliopathies

Created: 8 Dec 2015, 5:33 p.m.

Panel version: Imported from Primary ciliary disorders panel version 0

Hannah Mitchison (UCL and GOSH)

This is a ciliopathy but not a Primary Ciliary Disorder gene and should be removed from the panel
Created: 8 Dec 2015, 4:25 p.m.

Phenotypes
ciliopathies

Created: 8 Dec 2015, 4:25 p.m.

Panel version: Imported from Primary ciliary disorders panel version 0

Anthony De Soyza (NEWCASTLE university/ freeman hospital bronchiectasis service)

Green List (high evidence)

Sodium channelopathy associated gene- highly important to screen for in those with ? CF but negative CFTR analysis yet high Na+ in sweat test
Created: 17 Oct 2015, 7:02 p.m.

Publications

Created: 17 Oct 2015, 7:02 p.m.

Panel version: Imported from Non-CF bronchiectasis panel version 0

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Ciliopathies
  • Non-Classic Cystic Fibrosis-Like Syndrome
  • Pseudohypoaldosteronism, type I, 264350
  • Liddle syndrome, 177200
  • Bronchiectasis with or without elevated sweat chloride 1, 211400
  • Bronchiectasis
OMIM
600760
Clinvar variants
Variants in SCNN1B
Penetrance
None
Panels with this gene

History Filter Activity

17 Jan 2019, Gel status: 4

Set mode of inheritance, Set Phenotypes

Louise Daugherty (Genomics England Curator)

Mode of inheritance for gene SCNN1B was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Added phenotypes Ciliopathies; Non-Classic Cystic Fibrosis-Like Syndrome; Pseudohypoaldosteronism, type I, 264350; Liddle syndrome, 177200; Bronchiectasis with or without elevated sweat chloride 1, 211400; Bronchiectasis for gene: SCNN1B

5 Dec 2018, Gel status: 3

Added New Source, Status Update

Louise Daugherty (Genomics England Curator)

Source Expert Review Green was added to SCNN1B. Rating Changed from Red List (low evidence) to Green List (high evidence)

5 Dec 2018, Gel status: 1

Created, Added New Source, Set mode of inheritance

Louise Daugherty (Genomics England Curator)

gene: SCNN1B was added gene: SCNN1B was added to Respiratory ciliopathies including non-CF bronchiectasis. Sources: NHS GMS Mode of inheritance for gene: SCNN1B was set to