Thoracic aortic aneurysm or dissectionGene: KCNN1
No disease association on OMIM and HGMD has no entries for this gene; nothing relevant on PubMed search
Created: 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 study
Created: 25 Mar 2019, 4:27 p.m.
Mode of inheritance
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.
no direct genotype-phenotype associations
Source South West GLH was added to KCNN1. Mode of inheritance for gene KCNN1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to Unknown
KCNN1 was added to Familial thoracic aortic aneurysms and dissectionpanel. Sources: UKGTN