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Idiopathic ventricular fibrillation

Gene: SCN5A

Amber List (moderate evidence)

SCN5A (sodium voltage-gated channel alpha subunit 5)
EnsemblGeneIds (GRCh38): ENSG00000183873
EnsemblGeneIds (GRCh37): ENSG00000183873
OMIM: 600163, Gene2Phenotype
SCN5A is in 12 panels

1 review

Juan Pablo Kaski (Great Ormond Street Hospital/UCL)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
LQT; Brugada syndrome; DCM

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Ventricular fibrillation, familial, 1, 603829
  • Ventricular fibrillation, familial, 1,
  • Paroxysmal Familial Ventricular Fibrillation
OMIM
600163
Clinvar variants
Variants in SCN5A
Penetrance
Complete
Panels with this gene

History Filter Activity

22 Mar 2018, Gel status: 2

Panel promoted to version 1.0

Louise Daugherty (Genomics England Curator)

22rd March 2018. Panel reviews were assessed, and panel was revised according to reviews and further curation.

25 Jul 2017, Gel status: 2

Gene classified by Genomics England curator

Olivia Niblock (Genomics England Curator)

This gene has been classified as Amber List (Moderate Evidence).

23 Mar 2017, Gel status: 2

Added New Source

Olivia Niblock (Genomics England Curator)

SCN5A was added to Idiopathic ventricular fibrillationpanel. Source: Illumina TruGenome Clinical Sequencing Services

23 Mar 2017, Gel status: 0

Created

Olivia Niblock (Genomics England Curator)

SCN5A was created by oniblock

23 Mar 2017, Gel status: 1

Added New Source

Olivia Niblock (Genomics England Curator)

SCN5A was added to Idiopathic ventricular fibrillationpanel. Sources: Radboud University Medical Center, Nijmegen