Catecholaminergic polymorphic VT
Gene: KCNE1EnsemblGeneIds (GRCh38): ENSG00000180509
EnsemblGeneIds (GRCh37): ENSG00000180509
OMIM: 176261, Gene2Phenotype
KCNE1 is in 8 panels
2 reviews
Rebecca Whittington (South West GLH)
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, MONDO:0017990
- 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
Set Phenotypes
Ivone Leong (Genomics England Curator)Phenotypes for gene: KCNE1 were changed from Catecholaminergic polymorphic ventricular tachycardia; Long QT syndrome to catecholaminergic polymorphic ventricular tachycardia, MONDO:0017990
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
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.
Created
Ellen McDonagh (Genomics England Curator)KCNE1 was created by ellenmcdonagh
Added New Source
Ellen McDonagh (Genomics England Curator)KCNE1 was added to Catecholaminergic Polymorphic Ventricular Tachycardiapanel. Sources: Literature