Brugada syndrome
Gene: CACNA2D1
CACNA2D1 (calcium voltage-gated channel auxiliary subunit alpha2delta 1)
EnsemblGeneIds (GRCh38): ENSG00000153956
EnsemblGeneIds (GRCh37): ENSG00000153956
OMIM: 114204, Gene2Phenotype
CACNA2D1 is in 7 panels
EnsemblGeneIds (GRCh38): ENSG00000153956
EnsemblGeneIds (GRCh37): ENSG00000153956
OMIM: 114204, Gene2Phenotype
CACNA2D1 is in 7 panels
1 review
Ivan Macciocca (Victorian Clinical Genetics Services)
disputed by ClinGen (21/11/2017) and as reported in Circulation. 2018;138:1195–1205 (PMID: 29959160)Created: 31 May 2020, 12:28 p.m. | Last Modified: 31 May 2020, 12:33 p.m.
Panel Version: 0.13
Publications
- PMID: 29959160
Details
- Mode of Inheritance
- Unknown
- Sources
-
- Expert Review Red
- Victorian Clinical Genetics Services
- Tags
- OMIM
- 114204
- Clinvar variants
- Variants in CACNA2D1
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
1 Jun 2020, Gel status: 1
Added Tag
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Tag disputed tag was added to gene: CACNA2D1.
1 Jun 2020, Gel status: 1
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: cacna2d1 has been classified as Red List (Low Evidence).
1 Jun 2020, Gel status: 1
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: CACNA2D1 were set to
1 Jun 2020, Gel status: 1
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: cacna2d1 has been classified as Red List (Low Evidence).
17 Nov 2019, Gel status: 3
Created, Added New Source, Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: CACNA2D1 was added gene: CACNA2D1 was added to Brugada syndrome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: CACNA2D1 was set to Unknown