Brugada syndrome

Gene: KCNE5

Red List (low evidence)

KCNE5 (potassium voltage-gated channel subfamily E regulatory subunit 5)
EnsemblGeneIds (GRCh38): ENSG00000176076
EnsemblGeneIds (GRCh37): ENSG00000176076
OMIM: 300328, Gene2Phenotype
KCNE5 is in 3 panels

5 reviews

Rebecca Whittington (South West GLH)

Red List (low evidence)

No links to phenotypes on OMIM
Created: 25 Mar 2019, 4:30 p.m.
NO strong evidence for this gene. Only one report - not enough information in report to look at variant in Alamut. PMID:18313602
Created: 25 Mar 2019, 4:27 p.m.

Mode of inheritance
Unknown

Ellen McDonagh (Genomics England Curator)

Red List (low evidence)

This gene was given a validity classification of Disputed by the ClinGen validity curation group and is reflected by providing a Red review here.The gene-disease summary was downloaded on 20th Feb 2019.For the full report and publications see the ClinGen Gene Validity Curation for each gene here: https://search.clinicalgenome.org/kb/gene-validity/10153
Created: 20 Feb 2019, 2:47 p.m.

Mode of inheritance
Disputed

Phenotypes
Brugada syndrome; MONDO_0015263

Sarah Leigh (Genomics England Curator)

Comment on publications: PMID 29350269: Report of a de novo variant in case of sudden cardiac death (female age 5), with atrial fibrillation and Brugada syndrome. PMID 30289750: "Kcne5 knockout ( Kcne5-/0) mice have ventricular premature beats, increased susceptibility to induction of polymorphic ventricular tachycardia (60 vs. 24% in Kcne5+/0 mice), and 10% shorter ventricular refractory period. The findings represent the first reported native role for Kcne5 and the first demonstrated Kcne regulation of KV2.1 in mouse heart. Increased KV current is a manifestation of KCNE5 disruption that is most likely common to both mouse and human hearts, providing a plausible mechanistic basis for human KCNE5-linked."
Created: 15 Nov 2018, 1:05 p.m.
Comment on publications: Report of a de novo variant in case of sudden cardiac death (female age 5), with atrial fibrillation and Brugada syndrome.
Created: 15 Nov 2018, 12:38 p.m.

Caroline Wright (Genomics England Curator)

Comment when marking as ready: Not on Manchester diagnostic panel
Created: 11 Feb 2016, 12:22 p.m.

Oxford Medical Genetics Laboratory (OUH NHS Foundation Trust)

Red List (low evidence)

Details

Mode of Inheritance
Unknown
Sources
  • Expert Review Red
  • South West GLH
Phenotypes
  • atrial fibrillation
  • Brugada syndrome
OMIM
300328
Clinvar variants
Variants in KCNE5
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

27 Feb 2019, Gel status: 1

Entity classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

Gene: kcne5 has been classified as Red List (Low Evidence).

21 Feb 2019, Gel status: 0

Added New Source, Set mode of inheritance, Status Update

Ellen McDonagh (Genomics England Curator)

Source South West GLH was added to KCNE5. Mode of inheritance for gene KCNE5 was changed from to Unknown Rating Changed from Red List (low evidence) to No List (delete)

15 Nov 2018, Gel status: 1

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: KCNE5 were set to 29350269

15 Nov 2018, Gel status: 1

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene: KCNE5 were changed from to atrial fibrillation; Brugada syndrome

15 Nov 2018, Gel status: 1

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: KCNE5 were set to

11 Feb 2016, Gel status: 0

Approved Gene

Caroline Wright (Genomics England Curator)

This proposed gene was validated and added to this panel

11 Feb 2016, Gel status: 0

Gene classified by Genomics England curator

Caroline Wright (Genomics England Curator)

This gene has been removed from the panel.

11 Jan 2016, Gel status: 0

Changed Gene Name

Ellen McDonagh (Genomics England Curator)

KCNE1L* was changed to KCNE5

6 Jan 2016, Gel status: 0

Added New Source

Oxford Medical Genetics Laboratory (OUH NHS Foundation Trust)

KCNE1L* was added to Brugada syndromepanel. Sources: Oxford Medical Genetics Laboratory

6 Jan 2016, Gel status: 0

Created

Oxford Medical Genetics Laboratory (OUH NHS Foundation Trust)

KCNE1L* was created by OxfordGenetics