Long QT Syndrome

Gene: KCNQ1

Green List (high evidence)

definitive as reported in Circulation. 2020 Feb 11;141(6):418-428 PMID: 31983240, by the International, Multicentered LQTS ClinGen Working Group

Created: 31 May 2020, 2:11 p.m. | Last Modified: 31 May 2020, 2:11 p.m.

Panel Version: 0.7

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
long QT syndrome

Publications

• PMID: 31983240

Variants in this GENE are reported as part of current diagnostic practice

Green List (high evidence)

Both mono allelic and biallelic variants cause disease; excess of maternally inherited variants observed in LongQT syndrome likely linked to imprinting at this locus.

Created: 31 Jan 2020, 11:31 a.m. | Last Modified: 2 Feb 2020, 10:32 p.m.

Panel Version: 0.3

Mode of inheritance
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal

Phenotypes
Atrial fibrillation, familial, 3 607554; Jervell and Lange-Nielsen syndrome 220400; Long QT syndrome 1, 192500; Short QT syndrome 2 609621

Green List (high evidence)

Imprinted gene (OMIM).

Created: 31 Jan 2020, 3:59 a.m. | Last Modified: 31 Jan 2020, 3:59 a.m.

Panel Version: 0.1

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
1. Atrial fibrillation, familial, 3 607554 AD; 2. Jervell and Lange-Nielsen syndrome 220400 AR; 3. Long QT syndrome 1 192500 AD; 4. Short QT syndrome 2 609621 AD; 5. {Long QT syndrome 1, acquired, susceptibility to} 192500 AD

Publications

• PMID: 20301308