Short QT syndrome

Gene: CACNA1C

Green List (high evidence)

CACNA1C (calcium voltage-gated channel subunit alpha1 C)
EnsemblGeneIds (GRCh38): ENSG00000151067
EnsemblGeneIds (GRCh37): ENSG00000151067
OMIM: 114205, Gene2Phenotype
CACNA1C is in 10 panels

9 reviews

Zornitza Stark (Australian Genomics)

Red List (low evidence)

Note association with Brugada is DISPUTED (ClinGen), can't really find evidence for association with Short QT syndrome.
Created: 3 Jul 2020, 10:47 a.m. | Last Modified: 3 Jul 2020, 10:47 a.m.
Panel Version: 2.3

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Ivone Leong (Genomics England Curator)

Green List (high evidence)

Submitted on behalf of the GMS Cardiology specialist group. The group has agreed that this gene should be Green on this panel.
Created: 18 Nov 2019, 2:42 p.m. | Last Modified: 18 Nov 2019, 2:42 p.m.
Panel Version: 1.23

Rebecca Whittington (South West GLH)

Red List (low evidence)

Timothy syndrome (601005); Brugada syndrome 3 (611875)
Created: 25 Mar 2019, 4:30 p.m.
Not associated with SQT
Created: 25 Mar 2019, 4:27 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

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.

James Eden (Manchester)

Green List (high evidence)

Gene currently tested by alternative panel, very few short QT referrals to date. 74 variants listed on HGMD (accessed 29/01/2019). ClinGen Knowledge Base: currently no association with Short QT syndrome, 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, NOT imprinted

Phenotypes
Brugada syndrome 3 (611875); Timothy syndrome (601005)

Publications

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

Oxford Medical Genetics Laboratory (OUH NHS Foundation Trust)

I don't know

No cases reported in the literature. No cases on ClinVar.
Created: 25 Jan 2019, 12:52 p.m.

Louise Daugherty (Genomics England Curator)

Comment on publications: removed inclusion of PMID
Created: 19 Nov 2018, 12:13 p.m.

Sarah Leigh (Genomics England Curator)

Green List (high evidence)

Associated with Brugada syndrome 3 611875 phenotype in OMIM and not in Gen2Phen. At least 3 variants identified in 3 unrelated cases of Brugada syndrome 3 611875 with shortened QT, together with supporting functional studies (PMID 30279520).
Created: 15 Nov 2018, 12:10 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Publications

Jules Hancox (University of Bristol)

Green List (high evidence)

Encodes alpha subunit of L-type Ca channels. Mutations are loss of function and lead to a mixed short QT/Brugada phenotype
Sources: Literature
Created: 17 Oct 2018, 8:38 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
short qt; brugada syndrome; syncope; scd

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • West Midlands, Oxford and Wessex GLH
  • South West GLH
  • London South GLH
  • North West GLH
  • Brugada syndrome (Version 1.7)
  • UKGTN
  • Expert Review Green
  • Long QT syndrome (Version 1.5)
  • Emory Genetics Laboratory
Phenotypes
  • Brugada syndrome 3 611875
  • syncope
  • brugada syndrome
  • scd
  • Brugada syndrome 3 (611875)
  • short qt
  • Timothy syndrome (601005)
Tags
for-review
OMIM
114205
Clinvar variants
Variants in CACNA1C
Penetrance
None
Publications
Panels with this gene

History Filter Activity

13 Jul 2020, Gel status: 3

Added Tag

Ivone Leong (Genomics England Curator)

Tag for-review tag was added to gene: CACNA1C.

13 Sep 2019, Gel status: 3

Added New Source

Ivone Leong (Genomics England Curator)

Source West Midlands, Oxford and Wessex GLH was added to CACNA1C.

12 Sep 2019, Gel status: 3

Set publications

Ivone Leong (Genomics England Curator)

Publications for gene: CACNA1C were set to 24291113; 16301704

21 Feb 2019, Gel status: 4

Added New Source

Ellen McDonagh (Genomics England Curator)

Source South West GLH was added to CACNA1C.

20 Feb 2019, Gel status: 4

Added New Source

Ellen McDonagh (Genomics England Curator)

Source London South GLH was added to CACNA1C.

14 Feb 2019, Gel status: 4

Added New Source, Set Phenotypes, Set publications

Ellen McDonagh (Genomics England Curator)

Source North West GLH was added to CACNA1C. Added phenotypes Brugada syndrome 3 (611875); Timothy syndrome (601005) for gene: CACNA1C Publications for gene CACNA1C were changed from 17224476; 28427417; 28490369; 29759541; 29697308 to 24291113; 16301704

20 Nov 2018, Gel status: 4

Panel promoted to version 1.0

Sarah Leigh (Genomics England Curator)

Jules Hancox: Encodes alpha subunit of L-typ

19 Nov 2018, Gel status: 4

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene: CACNA1C were set to PMID: 17224476; 28427417; 28490369; 29759541; 29697308

15 Nov 2018, Gel status: 3

Added New Source, Added New Source, Added New Source, Added New Source, Added New Source, Set Phenotypes, Status Update

Sarah Leigh (Genomics England Curator)

Source Emory Genetics Laboratory was added to CACNA1C. Source Long QT syndrome (Version 1.5) was added to CACNA1C. Source Expert Review Green was added to CACNA1C. Source UKGTN was added to CACNA1C. Source Brugada syndrome (Version 1.7) was added to CACNA1C. Added phenotypes Brugada syndrome 3 611875 for gene: CACNA1C 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: CACNA1C was added gene: CACNA1C was added to Short QT syndrome. Sources: Literature Mode of inheritance for gene: CACNA1C was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: CACNA1C were set to PMID: 17224476; 28427417; 28490369; 29759541; 29697308 Phenotypes for gene: CACNA1C were set to short qt; brugada syndrome; syncope; scd Review for gene: CACNA1C was set to GREEN