Brugada syndrome

Gene: CACNA1C

Red List (low evidence)

CACNA1C (calcium voltage-gated channel subunit alpha1 C)
EnsemblGeneIds (GRCh38): ENSG00000151067
EnsemblGeneIds (GRCh37): ENSG00000151067
OMIM: 114205, Gene2Phenotype
CACNA1C is in 8 panels

4 reviews

Rebecca Whittington (South West GLH)

Red List (low evidence)

Brugada syndrome 3 (OMIM 611875), Timothy syndrome (OMIM 601005)
Created: 25 Mar 2019, 4:30 p.m.
Couple of reports suggesting association with Short QT arrhythmia and Timothy Syndome. One variant which is reported has very high frequency on GnomAD and mixed BI. Another variant has no frequency and mixed BI. (PMID 1722476) Needs Review as not typical Brugada. PMID:20817017. PMID:25184293
Created: 25 Mar 2019, 4:27 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Variants in this GENE are reported as part of current diagnostic practice

Ellen McDonagh (Genomics England Curator)

Red List (low evidence)

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/10146
Created: 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; MONDO_0015263

Oxford Medical Genetics Laboratory (OUH NHS Foundation Trust)

Red List (low evidence)

Variants in this GENE are reported as part of current diagnostic practice

Caroline Wright (Genomics England Curator)

Comment when marking as ready: Comment on list classification: Only 2 families in OMIM Not on Manchester diagnostic panel
Created: 11 Feb 2016, 11:15 a.m.

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • South West GLH
  • London South GLH
  • Expert Review Red
  • Expert list
  • Emory Genetics Laboratory
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Brugada syndrome 3
OMIM
114205
Clinvar variants
Variants in CACNA1C
Penetrance
Complete
Panels with this gene

History Filter Activity

21 Feb 2019, Gel status: 1

Added New Source, Set mode of inheritance

Ellen McDonagh (Genomics England Curator)

Source South West GLH was added to CACNA1C. Mode of inheritance for gene CACNA1C was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

20 Feb 2019, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

Source London South GLH was added to CACNA1C.

11 Feb 2016, Gel status: 1

Gene classified by Genomics England curator

Caroline Wright (Genomics England Curator)

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

11 Feb 2016, Gel status: 1

Gene classified by Genomics England curator

Caroline Wright (Genomics England Curator)

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

13 Jul 2015, Gel status: 3

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene CACNA1C was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

13 Jul 2015, Gel status: 3

Added New Source

Ellen McDonagh (Genomics England Curator)

CACNA1C was added to Brugada syndromepanel. Sources: Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services,Emory Genetics Laboratory,Expert list

13 Jul 2015, Gel status: 3

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene CACNA1C was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

13 Jul 2015, Gel status: 3

Added New Source

Ellen McDonagh (Genomics England Curator)

CACNA1C was added to Brugada syndromepanel. Sources: Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services,Emory Genetics Laboratory,Expert list

13 Jul 2015, Gel status: 2

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene CACNA1C was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

13 Jul 2015, Gel status: 2

Added New Source

Ellen McDonagh (Genomics England Curator)

CACNA1C was added to Brugada syndromepanel. Sources: Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services,Emory Genetics Laboratory,Expert list

13 Jul 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

CACNA1C was added to Brugada syndromepanel. Sources: Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services,Emory Genetics Laboratory,Expert list