Gene Symbol:
KCNQ1
HGNC:6294
Locus Group:
protein-coding gene
Locus Type:
gene with protein product
Location:
11p15.5-p15.4
Filters:

Atrial fibrillation, familial, 3 classifications

atrial fibrillation, familial, 3
Submitted as: OMIM:607554
AD
08/31/2021
Evaluated
11/30/2023
Submitted

Familial atrial fibrillation classifications

familial atrial fibrillation
Submitted as: Orphanet:334
AD
09/14/2021
Evaluated
09/14/2021
Submitted

Hypertrophic cardiomyopathy classifications

hypertrophic cardiomyopathy
AD
05/09/2022
Evaluated
10/18/2023
Submitted

Jervell and Lange-Nielsen syndrome classifications

Jervell and Lange-Nielsen syndrome
Submitted as: Orphanet:90647
AR
09/14/2021
Evaluated
09/14/2021
Submitted

Jervell and Lange-Nielsen syndrome classifications

Jervell and Lange-Nielsen syndrome
AR
12/19/2017
Evaluated
10/18/2023
Submitted

Jervell and Lange-Nielsen syndrome 1 classifications

Jervell and Lange-Nielsen syndrome 1
Submitted as: OMIM:220400
AR
10/09/2020
Evaluated
11/09/2020
Submitted
Jervell and Lange-Nielsen syndrome 1
Submitted as: OMIM:220400
AR
07/22/2015
Evaluated
09/11/2023
Submitted
Jervell and Lange-Nielsen syndrome 1
AR
04/25/2022
Evaluated
09/11/2023
Submitted
Jervell and Lange-Nielsen syndrome 1
Submitted as: OMIM:220400
AR
08/17/2023
Evaluated
11/30/2023
Submitted

Long QT syndrome classifications

AD
09/25/2018
Evaluated
10/18/2023
Submitted

Long QT syndrome 1 classifications

long QT syndrome 1
AD
04/25/2022
Evaluated
09/11/2023
Submitted
long QT syndrome 1
AR
04/25/2022
Evaluated
09/11/2023
Submitted
long QT syndrome 1
Submitted as: OMIM:192500
AD
08/17/2023
Evaluated
11/30/2023
Submitted

Short QT syndrome classifications

short QT syndrome
Submitted as: Orphanet:51083
AD
09/14/2021
Evaluated
09/14/2021
Submitted
AD
10/27/2020
Evaluated
10/18/2023
Submitted

Short QT syndrome type 2 classifications

short QT syndrome type 2
AD
04/25/2022
Evaluated
09/11/2023
Submitted
short QT syndrome type 2
Submitted as: OMIM:609621
AD
08/31/2021
Evaluated
11/30/2023
Submitted

The GenCC data are available free of restriction under a CC0 1.0 Universal (CC0 1.0) Public Domain Dedication. The GenCC requests that you give attribution to GenCC and the contributing sources whenever possible and appropriate. The accepted Flagship manuscript is now available from Genetics in Medicine (https://www.gimjournal.org/article/S1098-3600(22)00746-8/fulltext).

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. The GenCC does not independently verify the submitted information. Though the information is obtained from sources believed to be reliable, no warranty, expressed or implied, is made regarding accuracy, adequacy, completeness, reliability or usefulness of any information. This disclaimer applies to both isolated and aggregate uses of the information. The information is provided on an "as is" basis, collected through periodic submission and therefore may not represent the most up-to-date information from the submitters. If you have questions about the medical relevance of information contained on this website, please see a healthcare professional; if you have questions about specific gene-disease claims, please contact the relevant sources; and if you have questions about the representation of the data on this website, please contact gencc@thegencc.org.