Brugada syndromeGene: KCNE5
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
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
Brugada syndrome; MONDO_0015263
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.
Comment when marking as ready: Not on Manchester diagnostic panel
Created: 11 Feb 2016, 12:22 p.m.
Gene: kcne5 has been classified as Red List (Low Evidence).
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)
Publications for gene: KCNE5 were set to 29350269
Phenotypes for gene: KCNE5 were changed from to atrial fibrillation; Brugada syndrome
Publications for gene: KCNE5 were set to
This proposed gene was validated and added to this panel
This gene has been removed from the panel.
KCNE1L* was changed to KCNE5
KCNE1L* was added to Brugada syndromepanel. Sources: Oxford Medical Genetics Laboratory
KCNE1L* was created by OxfordGenetics