1. Panels
  2. Cardiac arrhythmias - previous panel
  3. CACNB2
STRs in panel
Prev Next
Regions in panel
Prev Next

Cardiac arrhythmias - previous panel

Gene: CACNB2

Green List (high evidence)
CACNB2 (calcium voltage-gated channel auxiliary subunit beta 2)
EnsemblGeneIds (GRCh38): ENSG00000165995
EnsemblGeneIds (GRCh37): ENSG00000165995
OMIM: 600003, Gene2Phenotype
CACNB2 is in 3 panels

0 reviews

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
Phenotypes
  • brugada syndrome
  • Short QT syndrome 5
  • Brugada syndrome 4 611876
  • Brugada syndrome 4
  • short qt
OMIM
600003
Clinvar variants
Variants in CACNB2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

28 Jan 2019, Gel status: 4

Panel promoted to version 1.0

Ellen McDonagh (Genomics England Curator)

Checked against the component panels, and ready to be promoted to version 1.

17 Dec 2018, Gel status: 4

Set Phenotypes

Rebecca Foulger (Genomics England curator)

Added phenotypes brugada syndrome; Short QT syndrome 5; Brugada syndrome 4 611876; short qt for gene: CACNB2

17 Dec 2018, Gel status: 4

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Rebecca Foulger (Genomics England curator)

gene: CACNB2 was added gene: CACNB2 was added to Cardiac arrythmias. Sources: Expert Review Green Mode of inheritance for gene: CACNB2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: CACNB2 were set to 17224476; 30027834; 29759541 Phenotypes for gene: CACNB2 were set to Brugada syndrome 4