Brugada syndrome and cardiac sodium channel disease
Gene: CACNA2D1EnsemblGeneIds (GRCh38): ENSG00000153956
EnsemblGeneIds (GRCh37): ENSG00000153956
OMIM: 114204, Gene2Phenotype
CACNA2D1 is in 6 panels
5 reviews
Rebecca Whittington (South West GLH)
No links to phenotypes on OMIMCreated: 25 Mar 2019, 4:30 p.m.
3 / 4 variants reported in this gene in the paper have frequency / high frequency on GnomAD and mixed BI. No strong evidence presented in PMID 20817017. PMID:25527503. PMID:21383000.Created: 25 Mar 2019, 4:27 p.m.
Mode of inheritance
Unknown
Variants in this GENE are reported as part of current diagnostic practice
Ellen McDonagh (Genomics England Curator)
This gene was given a validity classification of Disputed by the ClinGen validity curation group and is reflected by providing a Red review here.The gene-disease summary was downloaded on 20th Feb 2019.For the full report and publications see the ClinGen Gene Validity Curation for each gene here: https://search.clinicalgenome.org/kb/gene-validity/10147Created: 20 Feb 2019, 2:47 p.m.
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.
Mode of inheritance
Disputed
Phenotypes
Brugada syndrome 1; MONDO_0011001
James Eden (Manchester)
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
Caroline Wright (Genomics England Curator)
Comment when marking as ready: All variants marked benign in clinvar linked with brugadaCreated: 11 Feb 2016, 11:30 a.m.
Oxford Medical Genetics Laboratory (OUH NHS Foundation Trust)
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- Unknown
- Sources
-
- South West GLH
- London South GLH
- North West GLH
- Expert Review Red
- Expert list
- Phenotypes
-
- Brugada syndrome, MONDO:0015263
- OMIM
- 114204
- Clinvar variants
- Variants in CACNA2D1
- Penetrance
- Complete
- Publications
- Panels with this gene
History Filter Activity
Set Phenotypes
Ivone Leong (Genomics England Curator)Phenotypes for gene: CACNA2D1 were changed from Brugada/Brugada like syndrome to Brugada syndrome, MONDO:0015263
Added New Source, Set mode of inheritance
Ellen McDonagh (Genomics England Curator)Source South West GLH was added to CACNA2D1. Mode of inheritance for gene CACNA2D1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to Unknown
Added New Source
Ellen McDonagh (Genomics England Curator)Source London South GLH was added to CACNA2D1.
Added New Source, Set mode of inheritance, Set publications
Ellen McDonagh (Genomics England Curator)Source North West GLH was added to CACNA2D1. Mode of inheritance for gene CACNA2D1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene CACNA2D1 were changed from to 17224476; 20817017; 27761167
Gene classified by Genomics England curator
Caroline Wright (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
Added New Source
Ellen McDonagh (Genomics England Curator)CACNA2D1 was added to Brugada syndromepanel. Sources: Expert list