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Molecular autopsy

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 6 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.
Created: 20 Feb 2019, 2:17 p.m.

Panel version: 0.86

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

Created: 14 Feb 2019, 1:38 p.m.

Panel version: 0.82

Details

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

History Filter Activity

20 Feb 2019, Gel status: 2

Added New Source

Ellen McDonagh (Genomics England Curator)

Source London South GLH was added to CACNA2D1.

14 Feb 2019, Gel status: 2

Added New Source, Set publications

Ellen McDonagh (Genomics England Curator)

Source North West GLH was added to CACNA2D1. Publications for gene CACNA2D1 were changed from 24440382 to 27761167; 17224476; 19862833; 16301704; 30420954; 20817017

20 Dec 2018, Gel status: 2

Set Phenotypes, Set publications

Ellen McDonagh (Genomics England Curator)

Added phenotypes Sudden death; cardiac arrhythmia for gene: CACNA2D1 Publications for gene CACNA2D1 were changed from 21383000; 29697308; 29759541 to 24440382

20 Dec 2018, Gel status: 2

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

Ellen McDonagh (Genomics England Curator)

gene: CACNA2D1 was added gene: CACNA2D1 was added to Molecular autopsy. Sources: 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 21383000; 29697308; 29759541 Phenotypes for gene: CACNA2D1 were set to aborted sudden death; Brugada/Brugada like syndrome; short qt; Brugada syndrome; Short QT syndrome 6