Sudden cardiac death - previous panel

Gene: CACNA2D1

Amber List (moderate evidence)

CACNA2D1 (calcium voltage-gated channel auxiliary subunit alpha2delta 1)
EnsemblGeneIds (GRCh38): ENSG00000153956
EnsemblGeneIds (GRCh37): ENSG00000153956
OMIM: 114204, Gene2Phenotype
CACNA2D1 is in 4 panels

2 reviews

Ellen McDonagh (Genomics England Curator)

I don't know

This gene was part of an initial gene list collated by Matthew Edwards Royal Brompton Hospital sent 16th Jan 2019 on behalf of the London South GLH for review by the GMS Cardiology Specialist Group. Only gene symbol from the Royal Brompton gene panel was provided - suggested initial gene rating and evidence for inclusion not provided with the list.
Created: 20 Feb 2019, 2:17 p.m.

James Eden (Manchester)

Red List (low evidence)

Gene currently tested on Manchester cardiac gene panel. Only class 1-3 variants detected to date. 18 variants listed on HGMD (accessed 29/01/2019). ClinGen Knowledge Base: disputed association with Brugada syndrome 1 (accessed 29/01/2019).
Created: 14 Feb 2019, 1:38 p.m.

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

Publications

Variants in this GENE are reported as part of current diagnostic practice

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • London South GLH
  • North West GLH
  • London South GLH
  • North West GLH
  • Expert Review Amber
Phenotypes
  • short qt
  • cardiac arrhythmia
  • Brugada/Brugada like syndrome
  • Sudden death
  • Brugada syndrome
  • aborted sudden death
  • Short QT syndrome 6
OMIM
114204
Clinvar variants
Variants in CACNA2D1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

9 Sep 2019, Gel status: 2

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

Ivone Leong (Genomics England Curator)

gene: CACNA2D1 was added gene: CACNA2D1 was added to Sudden cardiac death. Sources: North West GLH,London South GLH,Expert Review Amber Mode of inheritance for gene: CACNA2D1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: CACNA2D1 were set to 20817017; 27761167; 17224476; 16301704; 19862833; 30420954 Phenotypes for gene: CACNA2D1 were set to short qt; cardiac arrhythmia; Brugada/Brugada like syndrome; Sudden death; Brugada syndrome; aborted sudden death; Short QT syndrome 6