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  3. KCNE2
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Short QT syndrome

Gene: KCNE2

Red List (low 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

2 reviews

James Eden (Manchester)

Green List (high evidence)

Gene currently tested by alternative panel, very few short QT referrals to date. 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

Created: 14 Feb 2019, 1:38 p.m.

Panel version: 1.4

Sarah Leigh (Genomics England Curator)

Red List (low evidence)

Not associated with Short QT phenotype in OMIM or in Gen2Phen. Listed on the Long QT syndrome panel (Version 1.5) and Emory Genetics Laboratory's Long and Short QT SyndromesSequencing Panel.
Created: 15 Nov 2018, 12:10 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

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

Panel version: 0.4

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • North West GLH
  • Emory Genetics Laboratory
  • Long QT syndrome (Version 1.5)
Phenotypes
  • Long QT syndrome-6 (613693)
  • Atrial fibrillation, familial, 4 (611493)
OMIM
603796
Clinvar variants
Variants in KCNE2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

14 Feb 2019, Gel status: 1

Added New Source, Set Phenotypes, Set publications

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 16301704

20 Nov 2018, Gel status: 1

Panel promoted to version 1.0

Sarah Leigh (Genomics England Curator)

Sarah Leigh: Not associated with Short QT p

15 Nov 2018, Gel status: 1

Created, Added New Source, Set mode of inheritance

Sarah Leigh (Genomics England Curator)

gene: KCNE2 was added gene: KCNE2 was added to Short QT syndrome. Sources: Long QT syndrome (Version 1.5),Emory Genetics Laboratory Mode of inheritance for gene: KCNE2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted