Catecholaminergic polymorphic VT

Gene: KCNE1

Red List (low evidence)

KCNE1 (potassium voltage-gated channel subfamily E regulatory subunit 1)
EnsemblGeneIds (GRCh38): ENSG00000180509
EnsemblGeneIds (GRCh37): ENSG00000180509
OMIM: 176261, Gene2Phenotype
KCNE1 is in 8 panels

2 reviews

Rebecca Whittington (South West GLH)

Red List (low evidence)

Jervell and Lange-Nielsen syndrome 2 (OMIM 612347 - AR), Long QT syndrome 5 (OMIM 613695 - AD)
Created: 25 Mar 2019, 4:30 p.m.
No evidence for this gene assoc with CPVT.
Created: 25 Mar 2019, 4:27 p.m.

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

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

Ellen McDonagh (Genomics England Curator)

On the Inherited Cardiac Condition Genes panel for Catecholaminergic polymorphic ventricular tachycardia 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). The panel contains disease-causing, putatively pathogenic, research and phenocopy genes, and it is unclear from the publication whether this gene falls into the disease-causing category. No. of mutations indicated in supplemental table = 1.
Created: 19 Feb 2016, 11:33 a.m.

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • South West GLH
  • Literature
Phenotypes
  • Catecholaminergic polymorphic ventricular tachycardia
  • Long QT syndrome
OMIM
176261
Clinvar variants
Variants in KCNE1
Penetrance
Complete
Publications
  • 16818210
  • doi:10.​1007/​s12265-016-9673-5
Panels with this gene

History Filter Activity

21 Feb 2019, Gel status: 1

Added New Source, Set mode of inheritance

Ellen McDonagh (Genomics England Curator)

Source South West GLH was added to KCNE1. Mode of inheritance for gene KCNE1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

22 Jul 2016, Gel status: 0

panel promoted to version 1

Ellen McDonagh (Genomics England Curator)

22.07.2016: Panel revised according to reviews and further evidence. Confirmed the final panel with Karen McGuire at the Oxford Medical Genetics Laboratory prior to promoting to version 1.

19 Feb 2016, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

KCNE1 was created by ellenmcdonagh

19 Feb 2016, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

KCNE1 was added to Catecholaminergic Polymorphic Ventricular Tachycardiapanel. Sources: Literature