KCNQ1

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

11 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 11 panels
Green KCNQ1 in Genomic imprinting Version 0.149	review	MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)	Sources Expert Review Green Literature Phenotypes Short QT syndrome 2, OMIM:609621 Long QT syndrome-1, OMIM:192500 Atrial fibrillation, familial, 3, OMIM:607554
Red KCNQ1 in Familial Meniere Disease Level 3: Other hearing and ear disorders Level 2: Hearing and ear disorders Version 1.3	review	Not set	Sources Literature
Amber KCNQ1 in Pituitary hormone deficiency Version 3.11 Latest signed off version: v3.0 (22 Mar 2023)	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen Emory Genetics Laboratory Phenotypes Long QT syndrome 1 (192500) Pituitary hormone deficiency Tags watchlist Q1_24_NHS_review Q1_24_promote_green Q1_24_expert_review
Red KCNQ1 in Hypertrophic cardiomyopathy Level 3: Cardiomyopathy Level 2: Cardiovascular disorders Version 4.7 Latest signed off version: v4.0 (22 Mar 2023) Component of the following Super Panels: Sudden unexplained death or survivors of a cardiac event	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 Version 3.10 Latest signed off version: v3.1 (22 Mar 2023) Component of the following Super Panels: Cardiac arrhythmias Sudden unexplained death or survivors of a cardiac event	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 3: Cardiac arrhythmia Level 2: Cardiovascular disorders Version 3.7 Latest signed off version: v3.1 (22 Mar 2023) 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 Version 3.155 Latest signed off version: v3.0 (22 Mar 2023)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red PAGE DD-Gene2Phenotype Phenotypes JERVELL AND LANGE-NIELSEN SYNDROME TYPE 1
Green KCNQ1 in DDG2P Version 3.87 Latest signed off version: v3.1 (22 Mar 2023) 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 3: Non-syndromic hearing loss Level 2: Hearing and ear disorders Version 4.36 Latest signed off version: v4.0 (22 Mar 2023) 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 - microarray and sequencing Level 3: Neurodevelopmental disorders Level 2: Neurology and neurodevelopmental disorders Version 5.531 Latest signed off version: v5.0 (22 Mar 2023) 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
Green KCNQ1 in Severe Paediatric Disorders Version 1.184	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Next Generation Children Project Expert Review Green Expert list Phenotypes Short QT syndrome 2, 609621 Atrial fibrillation, familial, 3, 607554 Long QT syndrome 1, 192500 Jervell and Lange-Nielsen syndrome, 220400