Extreme early-onset hypertension

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

2 reviews

Fiona Karet (Universit y of Cambridge)

Green List (high evidence)

Sarah Leigh (Genomics England Curator)

Comment on phenotypes: Liddle syndrome, 177200 seems most relevant for this panel
Created: 7 Jun 2016, 1:16 p.m.
Comment when marking as ready: Associated with phenotype in OMIM, not G2P. Found in 3/4 sources. One reviewer recommends Green. Numerous variants reported in phenotype OMIM 177200
Created: 7 Jun 2016, 1:14 p.m.

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
  • Expert
Phenotypes
  • Bronchiectasis with or without elevated sweat chloride 1 211400
  • Liddle syndrome, 177200
  • Pseudohypoaldosteronism, type I, 264350
OMIM
600760
Clinvar variants
Variants in SCNN1B
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

3 Aug 2016, Gel status: 4

panel promoted to version 1

Sarah Leigh (Genomics England Curator)

Promoted 03/08/2016

7 Jun 2016, Gel status: 4

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for SCNN1B were set to Bronchiectasis with or without elevated sweat chloride 1 211400; Liddle syndrome, 177200; Pseudohypoaldosteronism, type I, 264350

7 Jun 2016, Gel status: 4

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

7 Jun 2016, Gel status: 3

Set Mode of Inheritance

Sarah Leigh (Genomics England Curator)

Mode of inheritance for SCNN1B was changed to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

7 Jun 2016, Gel status: 3

Upload gene information

Sarah Leigh (Genomics England Curator)

SCNN1B was added to Extreme early-onset hypertensionpanel. Sources: Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,UKGTN

7 Jun 2016, Gel status: 0

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene SCNN1B were set to Bronchiectasis with or without elevated sweat chloride 1 211400; Liddle syndrome, 177200; Pseudohypoaldosteronism, type I, 264350

8 May 2015, Gel status: 0

Added New Source

Eik Haraldsdottir (Genomics England)

SCNN1B was added to Extreme early-onset hypertensionpanel. Sources: Expert