Incidentalome

Gene: KCNQ1

Green List (high evidence)

KCNQ1 (potassium voltage-gated channel subfamily Q member 1)
EnsemblGeneIds (GRCh38): ENSG00000053918
EnsemblGeneIds (GRCh37): ENSG00000053918
OMIM: 607542, Gene2Phenotype
KCNQ1 is in 17 panels

3 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

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

Ivan Macciocca (Victorian Clinical Genetics Services)

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

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

Michelle Torres (Victorian Clinical Genetics Services)

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

Details

Mode of Inheritance
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
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
Tags
cardiac
OMIM
607542
Clinvar variants
Variants in KCNQ1
Penetrance
None
Panels with this gene

History Filter Activity

12 Aug 2022, Gel status: 3

Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag cardiac tag was added to gene: KCNQ1.

12 Aug 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: kcnq1 has been classified as Green List (High Evidence).

12 Aug 2022, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

12 Aug 2022, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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