Brugada syndrome and cardiac sodium channel disease
Gene: KCNE5EnsemblGeneIds (GRCh38): ENSG00000176076
EnsemblGeneIds (GRCh37): ENSG00000176076
OMIM: 300328, Gene2Phenotype
KCNE5 is in 3 panels
6 reviews
Ivone Leong (Genomics England Curator)
Comment on phenotypes: This gene is also associated with atrial fibrillationCreated: 2 Mar 2021, 11:52 a.m. | Last Modified: 2 Mar 2021, 11:52 a.m.
Panel Version: 2.18
Rebecca Whittington (South West GLH)
No links to phenotypes on OMIMCreated: 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:18313602Created: 25 Mar 2019, 4:27 p.m.
Mode of inheritance
Unknown
Ellen McDonagh (Genomics England Curator)
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/10153Created: 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 panelCreated: 11 Feb 2016, 12:22 p.m.
Oxford Medical Genetics Laboratory (OUH NHS Foundation Trust)
Details
- Mode of Inheritance
- Unknown
- Sources
-
- Expert Review Red
- South West GLH
- Phenotypes
-
- Brugada syndrome, MONDO:0015263
- OMIM
- 300328
- Clinvar variants
- Variants in KCNE5
- Penetrance
- Complete
- Publications
- Panels with this gene
History Filter Activity
Set Phenotypes
Ivone Leong (Genomics England Curator)Phenotypes for gene: KCNE5 were changed from atrial fibrillation; Brugada syndrome to Brugada syndrome, MONDO:0015263
Entity classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)Gene: kcne5 has been classified as Red List (Low Evidence).
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)
Set publications
Sarah Leigh (Genomics England Curator)Publications for gene: KCNE5 were set to 29350269
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for gene: KCNE5 were changed from to atrial fibrillation; Brugada syndrome
Set publications
Sarah Leigh (Genomics England Curator)Publications for gene: KCNE5 were set to
Approved Gene
Caroline Wright (Genomics England Curator)This proposed gene was validated and added to this panel
Gene classified by Genomics England curator
Caroline Wright (Genomics England Curator)This gene has been removed from the panel.
Changed Gene Name
Ellen McDonagh (Genomics England Curator)KCNE1L* was changed to KCNE5
Created
Oxford Medical Genetics Laboratory (OUH NHS Foundation Trust)KCNE1L* was created by OxfordGenetics
Added New Source
Oxford Medical Genetics Laboratory (OUH NHS Foundation Trust)KCNE1L* was added to Brugada syndromepanel. Sources: Oxford Medical Genetics Laboratory