Incidentalome

Gene: KCNE2

Amber List (moderate evidence)

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

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

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

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

History Filter Activity

12 Aug 2022, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: kcne2 has been classified as Amber List (Moderate Evidence).

12 Aug 2022, Gel status: 2

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: KCNE2 were changed from to Long QT syndrome 6, MIM# 613693

12 Aug 2022, Gel status: 2

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: KCNE2 were set to

12 Aug 2022, Gel status: 2

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: KCNE2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

12 Aug 2022, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: kcne2 has been classified as Amber List (Moderate Evidence).

12 Aug 2022, Gel status: 3

Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag cardiac tag was added to gene: KCNE2.

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: KCNE2 was added gene: KCNE2 was added to Incidentalome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: KCNE2 was set to Unknown