Sudden death in young people

Gene: CACNA2D1

Red List (low 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 Thomas (Genomics England Curator)

Comment on list classification: Red on Brugada panel; insufficient evidence at the current time.
Created: 19 Dec 2016, 4:13 p.m.

Rebecca Foulger (Genomics England curator)

Note that CACNA2D1 is a red gene on the Brugada panel, but is included on this 'Sudden death in young people' panel because of the patient decribed in PMID:24440382 (a man aged 32 years, who collapsed suddenly while he was at the supermarket).
Created: 6 Dec 2016, 2:43 p.m.
PMID:24440382 (2014) report a novel CACNA2D1 c.1982 C>T (Ser661Leu) variant in a man aged 32 years, who collapsed suddenly while he was at the supermarket.
Created: 29 Nov 2016, 10:03 a.m.

Details

Mode of Inheritance
Unknown
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Sudden death
  • cardiac arrhythmia
OMIM
114204
Clinvar variants
Variants in CACNA2D1
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

19 Dec 2016, Gel status: 1

panel promoted to version 1

Ellen Thomas (Genomics England Curator)

This panel contains genes which aren't arrhythmic or metabolic causes of sudden death with normal post mortem.

19 Dec 2016, Gel status: 1

Gene classified by Genomics England curator

Ellen Thomas (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

19 Dec 2016, Gel status: 1

Gene classified by Genomics England curator

Ellen Thomas (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

29 Nov 2016, Gel status: 0

Created

Rebecca Foulger (Genomics England curator)

CACNA2D1 was created by rfoulger

29 Nov 2016, Gel status: 0

Added New Source

Rebecca Foulger (Genomics England curator)

CACNA2D1 was added to Sudden death in young peoplepanel. Sources: Literature