Thoracic aortic aneurysm or dissection

Gene: KCNN1

Red List (low evidence)

KCNN1 (potassium calcium-activated channel subfamily N member 1)
EnsemblGeneIds (GRCh38): ENSG00000105642
EnsemblGeneIds (GRCh37): ENSG00000105642
OMIM: 602982, Gene2Phenotype
KCNN1 is in 2 panels

3 reviews

Rebecca Whittington (South West GLH)

Red List (low evidence)

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

Ellen McDonagh (Genomics England Curator)

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.

Matina Prapa (Genomics England Curator)

Red List (low evidence)

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



Mode of Inheritance
  • South West GLH
Clinvar variants
Variants in KCNN1
Panels with this gene

History Filter Activity

21 Feb 2019, Gel status: 1

Added New Source, Set mode of inheritance

Ellen McDonagh (Genomics England Curator)

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

3 Jul 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

KCNN1 was added to Familial thoracic aortic aneurysms and dissectionpanel. Sources: UKGTN