Incidentalome
Gene: KCNE2

KCNE2 (potassium voltage-gated channel subfamily E regulatory subunit 2)
EnsemblGeneIds (GRCh38): ENSG00000159197
EnsemblGeneIds (GRCh37): ENSG00000159197
OMIM: 603796, Gene2Phenotype
KCNE2 is in 4 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Long QT syndrome 6, MIM# 613693

Publications

31983240

Created: 12 Aug 2022, 4:25 a.m.
Last Modified: 12 Aug 2022, 4:25 a.m.
Panel version: 0.194

Ivan Macciocca (Victorian Clinical Genetics Services)

I don't know

as reported in Circulation. 2020 Feb 11;141(6):418-428 PMID: 31983240, by the International, Multicentered LQTS ClinGen Working Group:
KCNE2 was concluded to have strong evidence for acquired LQTS, however a recent comprehensive review of reported KCNE2 variants reported for LQTS demonstrated that KCNE2 variants routinely require secondary provocation to induce
phenotype, persuading the Working Group to conclude that KCNE2 has no supportive evidence as a cause of
LQTS in the absence of provoking factors (PMID: 28794082).
Created: 31 May 2020, 1:55 p.m. | Last Modified: 31 May 2020, 1:55 p.m.

Panel Version: 0.7

Publications

PMID: 31983240
28794082

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

Created: 31 May 2020, 1:55 p.m.
Last Modified: 31 May 2020, 1:55 p.m.
Panel version: Imported from Long QT Syndrome panel version 0.7

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Expert Review Amber
Victorian Clinical Genetics Services

Phenotypes

Long QT syndrome 6, MIM# 613693

Tags

cardiac

OMIM

603796

Clinvar variants

Variants in KCNE2

Penetrance

None

Publications

Panels with this gene