Thoracic aortic aneurysm or dissection (GMS)
Gene: KCNN1
Submitted on behalf of the GMS Cardiology specialist group. The group has agreed that this gene should be Red on this panel.Created: 18 Nov 2019, 4:33 p.m. | Last Modified: 18 Nov 2019, 4:33 p.m.
Panel Version: 0.35
Not listed on HGMD, limited information on OMIM. Alternative name SK1 possible confusion with SKI.Created: 2 Oct 2019, 4:11 p.m. | Last Modified: 2 Oct 2019, 4:11 p.m.
Panel Version: 0.32
Mode of inheritance
Unknown
No disease association on OMIM and HGMD has no entries for this gene; nothing relevant on PubMed searchCreated: 25 Mar 2019, 4:30 p.m.
Kim et al 2013 J Hum Genet 58:521 PMID:23677057 KCNN2 identified as a susceptiblity locus for coronary artery aneurysms in GWAS studyCreated: 25 Mar 2019, 4:27 p.m.
Mode of inheritance
Unknown
Not on the Inherited Cardiac Condition Genes panel for Familial aortic anuerysm reported in: Development of a Comprehensive Sequencing Assay for Inherited Cardiac Condition Genes, Pua et al, Journal of Cardiovascular Translational Research, online Feb 2016 (doi:10.1007/s12265-016-9673-5). The panel contains disease-causing, putatively pathogenic, research and phenocopy genes.Created: 19 Feb 2016, 10:58 a.m.
KCNN2 (also known as SK2) identified as a susceptibility locus for coronary artery aneurysms in Kawasaki disease using genome-wide association analysis (see ref). No links between KCNN1/SK1 and TAAD.Created: 14 Feb 2016, 12:07 p.m.
Phenotypes
no direct genotype-phenotype associations
Publications
gene: KCNN1 was added gene: KCNN1 was added to GMS FTAAD placeholder panel. Sources: South West GLH,Expert Review Red Mode of inheritance for gene: KCNN1 was set to Unknown