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  3. CACNA2D1
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Cardiac arrhythmias - 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 6 panels

0 reviews

Details

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

History Filter Activity

28 Jan 2019, Gel status: 2

Panel promoted to version 1.0

Ellen McDonagh (Genomics England Curator)

Eleanor Williams: Sources: Literature

18 Dec 2018, Gel status: 2

Added Tag

Rebecca Foulger (Genomics England curator)

Tag watchlist tag was added to gene: CACNA2D1.

17 Dec 2018, Gel status: 2

Set Phenotypes

Rebecca Foulger (Genomics England curator)

Added phenotypes Brugada/Brugada like syndrome for gene: CACNA2D1

17 Dec 2018, Gel status: 2

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

Rebecca Foulger (Genomics England curator)

gene: CACNA2D1 was added gene: CACNA2D1 was added to Cardiac arrythmias. 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 29697308; 21383000; 29759541 Phenotypes for gene: CACNA2D1 were set to Short QT syndrome 6; Brugada syndrome; short qt; aborted sudden death