KCNQ1

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

11 panels

Panel Reviews Mode of inheritance Details
11 panels

Green KCNQ1 in Genomic imprinting


Version 0.138

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 2.13
Latest signed off version: v2.2 (3 Mar 2020)

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
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

Red KCNQ1 in Hypertrophic cardiomyopathy - teen and adult

Level 3: Cardiomyopathy
Level 2: Cardiovascular disorders
Version 2.40
Latest signed off version: v2.11 (15 Oct 2020)

Component of the following Super Panels:

  • Sudden cardiac death
  • 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 2.14
    Latest signed off version: v2.4 (20 Aug 2020)

    Component of the following Super Panels:

  • Cardiac arrhythmias
  • Sudden cardiac death
  • 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 2.32
    Latest signed off version: v2.20 (20 Aug 2020)

    Component of the following Super Panels:

  • Cardiac arrhythmias
  • Sudden cardiac death
  • 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 1.880
    Latest signed off version: v1.92 (21 Aug 2020)

    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 2.76
    Latest signed off version: v2.2 (13 Feb 2020)

    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 Hearing loss

    Level 3: Non-syndromic hearing loss
    Level 2: Hearing and ear disorders
    Version 2.247
    Latest signed off version: v2.5 (13 Feb 2020)

    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 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 3.1651
    Latest signed off version: v3.2 (13 Feb 2020)

    Component of the following Super Panels:

  • Hypotonic infant
  • Paediatric disorders
  • White matter disorders - childhood onset
  • 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 1.127

    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