Sudden death in young people
Gene: CACNA2D1
CACNA2D1 (calcium voltage-gated channel auxiliary subunit alpha2delta 1)
EnsemblGeneIds (GRCh38): ENSG00000153956
EnsemblGeneIds (GRCh37): ENSG00000153956
OMIM: 114204, Gene2Phenotype
CACNA2D1 is in 6 panels
EnsemblGeneIds (GRCh38): ENSG00000153956
EnsemblGeneIds (GRCh37): ENSG00000153956
OMIM: 114204, Gene2Phenotype
CACNA2D1 is in 6 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