Long QT syndrome

Gene: KCNE2

Green List (high evidence)

KCNE2 (potassium voltage-gated channel subfamily E regulatory subunit 2)
EnsemblGeneIds (GRCh38): ENSG00000159197
EnsemblGeneIds (GRCh37): ENSG00000159197
OMIM: 603796, Gene2Phenotype
KCNE2 is in 2 panels

9 reviews

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, 2:09 p.m. | Last Modified: 18 Nov 2019, 2:09 p.m.
Panel Version: 1.44

Rebecca Whittington (South West GLH)

Green List (high evidence)

Atrial fibrillation, familial, 4 (OMIM 611493), Long QT syndrome 6 (OMIM 613693)
Created: 25 Mar 2019, 4:30 p.m.
Literature/functional evidence for this gene. PMID:19716085. PMID:27465075. PMID:20042375.
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

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

Green List (high evidence)

On Royal Brompton diagnostic LQTS panel. Decent evidence in literature; however ony VUS reported from our lab so far, and no definitive pathogenic ClinVar entries.
Created: 19 Mar 2019, 3:12 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Long QT syndrome-6 (613693); Atrial fibrillation, familial, 4 (611493)

James Eden (Manchester)

Green List (high evidence)

Gene currently tested on Manchester cardiac gene panel. 25 variants listed on HGMD (accessed 29/01/2019). ClinGen Knowledge Base: gene not curated (accessed 29/01/2019).
Created: 14 Feb 2019, 1:38 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Long QT syndrome-6 (613693); Atrial fibrillation, familial, 4 (611493)

Publications

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

Bill Newman (Manchester Centre for Genomic Medicine)

Green List (high evidence)

Caroline Wright (Genomics England Curator)

Comment on list classification: On Manchester diagnostic panel
Created: 7 Mar 2016, 4:17 p.m.

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.
On the Inherited Cardiac Condition Genes panel reported in: Development of a Comprehensive Sequencing Assay for Inherited Cardiac Condition Genes, Pua et al, Journal of Cardiovascular Translational Research, online Feb 2016 (doi:10.​1007/​s12265-016-9673-5). This gene was within the list categorised by primary disease association. No. of mutations indicated in supplemental table = 22.
Created: 4 Mar 2016, 4:25 p.m.

Publications

  • doi:10.​1007/​s12265-016-9673-5
  • 11468227

Damian Smedley (Genomics England Curator)

Comment when marking as ready: Good evidence from OMIM as well
Created: 1 Feb 2016, 9:01 p.m.

Oxford Medical Genetics Laboratory (OUH NHS Foundation Trust)

I don't know

Very little genetic variation in this gene. No significant evidence of pathogenic variants in this gene according to todays classification standards but it remains a good functional candidate. Happy for it to remain on the LQT panel.
Created: 25 Jan 2019, 12:41 p.m.
Traditionally considered a LQTS causing gene, however, no KCNE2 variants detected in our cohort have been classified as 'pathogenic'. Lots of variants detected in this gene at relatively low levels on ExAC. Whole gene deletions (including the region that covers KCNE1) have been detected in our cohort.
Created: 2 Mar 2016, 4:20 p.m.

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

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • South West GLH
  • London South GLH
  • North West GLH
  • Expert Review Green
  • Emory Genetics Laboratory
  • Expert list
  • UKGTN
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Long QT syndrome 6 (613693)
  • Atrial fibrillation, familial, 4 (611493)
OMIM
603796
Clinvar variants
Variants in KCNE2
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

12 Sep 2019, Gel status: 3

Set Phenotypes

Ivone Leong (Genomics England Curator)

Phenotypes for gene: KCNE2 were changed from Long QT syndrome-6 (613693); Long QT syndrome-6 ; Atrial fibrillation, familial, 4 (611493) to Long QT syndrome 6 (613693); Atrial fibrillation, familial, 4 (611493)

12 Sep 2019, Gel status: 3

Set publications

Ivone Leong (Genomics England Curator)

Publications for gene: KCNE2 were set to 19716085

21 Feb 2019, Gel status: 4

Added New Source

Ellen McDonagh (Genomics England Curator)

Source South West GLH was added to KCNE2.

20 Feb 2019, Gel status: 4

Added New Source

Ellen McDonagh (Genomics England Curator)

Source London South GLH was added to KCNE2.

14 Feb 2019, Gel status: 3

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

Ellen McDonagh (Genomics England Curator)

Source North West GLH was added to KCNE2. Added phenotypes Long QT syndrome-6 (613693); Atrial fibrillation, familial, 4 (611493) for gene: KCNE2 Publications for gene KCNE2 were changed from to 19716085 Rating Changed from Green List (high evidence) to Green List (high evidence)

7 Mar 2016, Gel status: 4

Gene classified by Genomics England curator

Caroline Wright (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

7 Mar 2016, Gel status: 4

Gene classified by Genomics England curator

Caroline Wright (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

4 Mar 2016, Gel status: 2

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Amber List (Moderate Evidence).

1 Feb 2016, Gel status: 4

Gene classified by Genomics England curator

Damian Smedley (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

1 Feb 2016, Gel status: 4

Set Mode of Inheritance

Damian Smedley (Genomics England Curator)

Mode of inheritance for KCNE2 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

13 Jul 2015, Gel status: 4

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene KCNE2 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

13 Jul 2015, Gel status: 4

Added New Source

Ellen McDonagh (Genomics England Curator)

KCNE2 was added to Long QT syndromepanel. Sources: Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services,UKGTN,Expert list,Emory Genetics Laboratory

13 Jul 2015, Gel status: 3

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene KCNE2 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

13 Jul 2015, Gel status: 3

Added New Source

Ellen McDonagh (Genomics England Curator)

KCNE2 was added to Long QT syndromepanel. Sources: Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services,UKGTN,Expert list,Emory Genetics Laboratory

13 Jul 2015, Gel status: 3

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene KCNE2 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

13 Jul 2015, Gel status: 3

Added New Source

Ellen McDonagh (Genomics England Curator)

KCNE2 was added to Long QT syndromepanel. Sources: Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services,UKGTN,Expert list,Emory Genetics Laboratory

13 Jul 2015, Gel status: 2

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene KCNE2 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

13 Jul 2015, Gel status: 2

Added New Source

Ellen McDonagh (Genomics England Curator)

KCNE2 was added to Long QT syndromepanel. Sources: Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services,UKGTN,Expert list,Emory Genetics Laboratory

13 Jul 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

KCNE2 was added to Long QT syndromepanel. Sources: Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services,UKGTN,Expert list,Emory Genetics Laboratory