Thoracic aortic aneurysm and 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

5 reviews

Ivone Leong (Genomics England Curator)

Red List (low evidence)

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

James Eden (Manchester)

Red List (low evidence)

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

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
Unknown

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.

Phenotypes
no direct genotype-phenotype associations

Publications

Details

Mode of Inheritance
Unknown
Sources
  • Expert Review Red
  • South West GLH
  • South West GLH
OMIM
602982
Clinvar variants
Variants in KCNN1
Penetrance
None
Panels with this gene

History Filter Activity

18 Apr 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance

Ellen McDonagh (Genomics England Curator)

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