Incidentalome
Gene: KCNQ1
DEFINITIVE for Long QT and Jervell and Lange-Nielsen syndrome, STRONG for short QT syndrome.Created: 12 Aug 2022, 4:08 a.m. | Last Modified: 12 Aug 2022, 4:08 a.m.
Panel Version: 0.189
Mode of inheritance
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Phenotypes
Long QT syndrome 1, MIM# 192500; Short QT syndrome 2, MIM# 609621; Jervell and Lange-Nielsen syndrome, MIM# 220400; Atrial fibrillation, familial, 3, MIM# 607554
definitive as reported in Circulation. 2020 Feb 11;141(6):418-428 PMID: 31983240, by the International, Multicentered LQTS ClinGen Working GroupCreated: 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
Variants in this GENE are reported as part of current diagnostic practice
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
Tag cardiac tag was added to gene: KCNQ1.
Gene: kcnq1 has been classified as Green List (High Evidence).
Phenotypes for gene: KCNQ1 were changed from to Long QT syndrome 1, MIM# 192500; Short QT syndrome 2, MIM# 609621; Jervell and Lange-Nielsen syndrome, MIM# 220400; Atrial fibrillation, familial, 3, MIM# 607554
Mode of inheritance for gene: KCNQ1 was changed from Unknown to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
gene: KCNQ1 was added gene: KCNQ1 was added to Incidentalome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: KCNQ1 was set to Unknown