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Short QT syndrome

Gene: CACNB2

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

7 reviews

Ivone Leong (Genomics England Curator)

I don't know

Submitted on behalf of the GMS Cardiology specialist group. The group has agreed that this gene should be Amber on this panel.
Created: 18 Nov 2019, 2:45 p.m. | Last Modified: 18 Nov 2019, 2:45 p.m.
Panel Version: 1.23
Comment on mode of inheritance: MOI was corrected.
Created: 30 Sep 2019, 12:24 p.m. | Last Modified: 30 Sep 2019, 12:24 p.m.
Panel Version: 1.23
Created: 30 Sep 2019, 12:24 p.m.
Last Modified: 30 Sep 2019, 12:24 p.m.
Panel version: 1.23

James Eden (Manchester)

I don't know

See table 1/figure 3 of Campuzano 2018, gene associated with Short QT syndrome. Only one patient with Short QT syndrome tested to date in Manchester.
Created: 25 Sep 2019, 1:19 p.m. | Last Modified: 25 Sep 2019, 1:31 p.m.
Panel Version: 1.20

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Publications

Created: 25 Sep 2019, 1:19 p.m.
Last Modified: 25 Sep 2019, 1:31 p.m.
Panel version: 1.20

Matthew Edwards (Clinical Genetics & Genomics Lab, Royal Brompton & Harefield NHS Trust)

I don't know

On CGGL Royal Brompton Panel currently, but no variants yet detected. Agree with limited evidence detailed in other reviews. more evidence needed
Created: 18 Sep 2019, 1:49 p.m. | Last Modified: 18 Sep 2019, 1:49 p.m.
Panel Version: 1.20

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

Created: 18 Sep 2019, 1:49 p.m.
Last Modified: 18 Sep 2019, 1:49 p.m.
Panel version: 1.20

Rebecca Whittington (South West GLH)

Red List (low evidence)

Brugada syndrome 4 611876
Created: 25 Mar 2019, 4:30 p.m.
1 variant reported associated with SQT on HGMD 29016797, functional evidence questions pathogenicity 25527503
Created: 25 Mar 2019, 4:27 p.m.

Mode of inheritance
Unknown

Created: 25 Mar 2019, 4:24 p.m.

Panel version: 1.10

Ellen McDonagh (Genomics England Curator)

I don't know

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.
Created: 20 Feb 2019, 2:17 p.m.

Panel version: 1.6

Sarah Leigh (Genomics England Curator)

I don't know

Comment on list classification: Taking into consideration the Expert review green, this gene is rated amber rather than red, awaiting further reports of Short QT syndrome 5 associated with Brugada syndrome 4.
Created: 19 Nov 2018, 12:43 p.m.
Associated with Short QT phenotype in OMIM, but not in Gen2Phen. Listed on the Brugada syndrome panel (Version 1.7) and UKGTN. One variant reported in one case of Brugada syndrome 4 with a shortened QTc interval (PMID 17224476, 30027834, 29759541).
Created: 15 Nov 2018, 12:10 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Publications

Created: 15 Nov 2018, 12:10 p.m.

Panel version: 0.4

Jules Hancox (University of Bristol)

Green List (high evidence)

Mutations are to an accessory subunit for L-type Ca channels. Mixed SQTS and Brugada phenotype.

Loss of function mutations.
Sources: Literature
Created: 17 Oct 2018, 8:48 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
short qt; brugada syndrome

Publications

Created: 17 Oct 2018, 8:48 p.m.

Panel version: 0.1

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • South West GLH
  • London South GLH
  • North West GLH
  • Expert Review Amber
  • UKGTN
  • Brugada syndrome (Version 1.7)
Phenotypes
  • Brugada syndrome 4 (611876)
  • Short QT syndrome 5
  • brugada syndrome
  • Brugada syndrome 4 611876
  • short qt
Tags
watchlist
OMIM
600003
Clinvar variants
Variants in CACNB2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

30 Sep 2019, Gel status: 2

Set mode of inheritance

Ivone Leong (Genomics England Curator)

Mode of inheritance for gene: CACNB2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

21 Feb 2019, Gel status: 2

Added New Source, Set mode of inheritance

Ellen McDonagh (Genomics England Curator)

Source South West GLH was added to CACNB2. Mode of inheritance for gene CACNB2 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to Unknown

20 Feb 2019, Gel status: 2

Added New Source

Ellen McDonagh (Genomics England Curator)

Source London South GLH was added to CACNB2.

14 Feb 2019, Gel status: 2

Added New Source, Set Phenotypes, Set publications

Ellen McDonagh (Genomics England Curator)

Source North West GLH was added to CACNB2. Added phenotypes Brugada syndrome 4 (611876) for gene: CACNB2 Publications for gene CACNB2 were changed from 17224476; 30027834; 29759541 to 30420954; 19862833; 16301704

20 Nov 2018, Gel status: 2

Panel promoted to version 1.0

Sarah Leigh (Genomics England Curator)

Jules Hancox: Mutations are to an accessory

19 Nov 2018, Gel status: 2

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

Gene: cacnb2 has been classified as Amber List (Moderate Evidence).

19 Nov 2018, Gel status: 2

Added Tag

Sarah Leigh (Genomics England Curator)

Tag watchlist tag was added to gene: CACNB2.

19 Nov 2018, Gel status: 2

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

Gene: cacnb2 has been classified as Amber List (Moderate Evidence).

19 Nov 2018, Gel status: 2

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

Gene: cacnb2 has been classified as Amber List (Moderate Evidence).

19 Nov 2018, Gel status: 4

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene: CACNB2 were set to PMID: 17224476; 30027834; 29759541

15 Nov 2018, Gel status: 3

Added New Source, Added New Source, Added New Source, Set mode of inheritance, Set Phenotypes, Status Update

Sarah Leigh (Genomics England Curator)

Source Brugada syndrome (Version 1.7) was added to CACNB2. Source Expert Review Green was added to CACNB2. Source UKGTN was added to CACNB2. Mode of inheritance for gene CACNB2 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Added phenotypes Brugada syndrome 4 611876; Short QT syndrome 5 for gene: CACNB2 Rating Changed from No List (delete) to Green List (high evidence)

17 Oct 2018, Gel status: 0

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

Jules Hancox (University of Bristol)

gene: CACNB2 was added gene: CACNB2 was added to Short QT syndrome. Sources: Literature Mode of inheritance for gene: CACNB2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: CACNB2 were set to PMID: 17224476; 30027834; 29759541 Phenotypes for gene: CACNB2 were set to short qt; brugada syndrome Review for gene: CACNB2 was set to GREEN