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

ClinGen classifications

Jervell and Lange-Nielsen syndrome
AR
12/19/2017
Evaluated
04/21/2024
Submitted
AD
10/27/2020
Evaluated
04/21/2024
Submitted
hypertrophic cardiomyopathy
AD
05/09/2022
Evaluated
04/21/2024
Submitted
AD
09/25/2018
Evaluated
04/21/2024
Submitted

Invitae classifications

long QT syndrome 1
Submitted as: OMIM:192500
AD
08/17/2023
Evaluated
11/30/2023
Submitted
atrial fibrillation, familial, 3
Submitted as: OMIM:607554
AD
08/31/2021
Evaluated
11/30/2023
Submitted
short QT syndrome type 2
Submitted as: OMIM:609621
AD
08/31/2021
Evaluated
11/30/2023
Submitted
Jervell and Lange-Nielsen syndrome 1
Submitted as: OMIM:220400
AR
08/17/2023
Evaluated
11/30/2023
Submitted

Orphanet classifications

familial atrial fibrillation
Submitted as: Orphanet:334
AD
09/14/2021
Evaluated
09/14/2021
Submitted
short QT syndrome
Submitted as: Orphanet:51083
AD
09/14/2021
Evaluated
09/14/2021
Submitted
Jervell and Lange-Nielsen syndrome
Submitted as: Orphanet:90647
AR
09/14/2021
Evaluated
09/14/2021
Submitted

PanelApp Australia classifications

Jervell and Lange-Nielsen syndrome 1
Submitted as: OMIM:220400
AR
10/09/2020
Evaluated
11/09/2020
Submitted

G2P classifications

Jervell and Lange-Nielsen syndrome 1
Submitted as: OMIM:220400
AR
07/22/2015
Evaluated
09/11/2023
Submitted
short QT syndrome type 2
AD
04/25/2022
Evaluated
09/11/2023
Submitted
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
Jervell and Lange-Nielsen syndrome 1
AR
04/25/2022
Evaluated
09/11/2023
Submitted

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