KCNQ1

potassium voltage-gated channel subfamily Q member 1
OMIM: 607542, Gene2Phenotype

9 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 9 panels
Red KCNQ1 in Familial Meniere Disease Level 3: Other hearing and ear disorders Level 2: Hearing and ear disorders Version 1.4	review	Not set	Sources Literature
Green KCNQ1 in Pituitary hormone deficiency Level 2: Endocrinology Version 4.6 Latest signed off version: v4.0 (30 Apr 2025)	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources NHS GMS Expert Review Green Literature Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen Emory Genetics Laboratory Phenotypes Long QT syndrome 1 (192500) Pituitary hormone deficiency
Red KCNQ1 in Hypertrophic cardiomyopathy Level 2: Cardiology Version 5.29 Latest signed off version: v5.0 (30 Apr 2025) Component of the following Super Panels: Sudden unexplained death or survivors of a cardiac event Unexplained death in infancy and sudden unexplained death in childhood	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources South West GLH Literature Phenotypes Hypertrophic cardiomyopathy Long QT syndrome Short QT syndrome
Green KCNQ1 in Short QT syndrome Level 2: Cardiology Version 3.16 Latest signed off version: v3.14 (30 Apr 2025) Component of the following Super Panels: Cardiac arrhythmias Sudden unexplained death or survivors of a cardiac event Unexplained death in infancy and sudden unexplained death in childhood	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources West Midlands, Oxford and Wessex GLH Expert Review Green South West GLH London South GLH North West GLH Radboud University Medical Center, Nijmegen UKGTN Long QT syndrome (Version 1.5) Emory Genetics Laboratory Other Phenotypes Short QT syndrome 2, OMIM:609621 Long QT syndrome-1, OMIM:192500 Atrial fibrillation, familial, 3, OMIM:607554
Green KCNQ1 in Long QT syndrome Level 2: Cardiology Version 3.12 Latest signed off version: v3.10 (30 Apr 2025) Component of the following Super Panels: Cardiac arrhythmias Sudden unexplained death or survivors of a cardiac event Unexplained death in infancy and sudden unexplained death in childhood	review	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green Eligibility statement prior genetic testing Expert list Emory Genetics Laboratory Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen UKGTN Phenotypes Jervell and Lange-Nielsen syndrome (220400) Atrial fibrillation, familial, 3 (607554) Long QT syndrome-1 (192500) Long QT syndrome-1 Short QT syndrome 2 (609621)
Red KCNQ1 in Fetal anomalies Level 2: Fetal (including NIPD) Version 6.196 Latest signed off version: v6.0 (30 Apr 2025)	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources NHS GMS Expert Review Red PAGE DD-Gene2Phenotype Phenotypes Long QT syndrome 1, OMIM:192500
Green KCNQ1 in DDG2P Version 6.447 Latest signed off version: v6.0 (30 Apr 2025) Component of the following Super Panels: Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes JERVELL AND LANGE-NIELSEN SYNDROME TYPE 1 220400
Green KCNQ1 in Monogenic hearing loss Level 2: Audiology Version 5.73 Latest signed off version: v5.0 (30 Apr 2025) Component of the following Super Panels: Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Radboud University Medical Center, Nijmegen Emory Genetics Laboratory Phenotypes #220400: Jervell and Lange-Nielsen syndrome [Congenital sensorineural hearing loss, Prolonged QT interval on EKG, SyncopeTorsades de pointes, Sudden cardiac death, Caused by mutation in the potassium voltage-gated channel, KQT-like subfamily, member 1 gene (KCNQ1), Caused by mutation in the potassium voltage-gated channel, Isk-related subfamily, member 1 gene (KCNE1)]
Red KCNQ1 in Intellectual disability Level 2: Developmental disorders Version 9.400 Latest signed off version: v9.0 (30 Apr 2025) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Long QT syndrome 1, 192500 Jervell and Lange-Nielsen syndrome, 220400 Atrial fibrillation, familial, 3, 607554 Short QT syndrome 2, 609621 {Long QT syndrome 1, acquired, susceptibility to}, 192500