KCNJ2

potassium voltage-gated channel subfamily J member 2
OMIM: 600681, Gene2Phenotype

14 panels

Panel Reviews Mode of inheritance Details
14 panels

Green KCNJ2 in Brain Channelopathies


Level 2: Neurology and neurodevelopmental disorders
Version 1.3

Component of the following Super Panels:

  • Progressive Neurological Conditions
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Andersen syndrome, MIM# 170390

    Red KCNJ2 in Catecholaminergic Polymorphic Ventricular Tachycardia


    Level 2: Cardiovascular disorders
    Version 0.35

    Component of the following Super Panels:

  • Adult Cardiac SuperPanel
  • Arrhythmia_SuperPanel
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Red
    • Victorian Clinical Genetics Services
    Phenotypes
    • catecholaminergic polymorphic ventricular tachycardia MONDO:0017990

    Green KCNJ2 in Long QT Syndrome


    Level 2: Cardiovascular disorders
    Version 0.61

    Component of the following Super Panels:

  • Adult Cardiac SuperPanel
  • Arrhythmia_SuperPanel
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • long QT syndrome
    • Andersen-Tawil syndrome

    Green KCNJ2 in Mendeliome


    Version 1.1902

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Andersen syndrome MIM#170390
    • Atrial fibrillation, familial, 9 MIM#613980
    • Short QT syndrome 3 MIM#609622

    Green KCNJ2 in Pierre Robin Sequence


    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 0.47

    review Unknown
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Green

    Green KCNJ2 in Short QT syndrome


    Level 2: Cardiovascular disorders
    Version 1.7

    Component of the following Super Panels:

  • Adult Cardiac SuperPanel
  • Arrhythmia_SuperPanel
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Short QT syndrome

    Green KCNJ2 in Skeletal dysplasia

    Level 3: Skeletal dysplasias
    Level 2: Skeletal disorders
    Version 0.285

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Andersen syndrome MIM#170390

    Green KCNJ2 in Paroxysmal Dyskinesia


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.131

    Component of the following Super Panels:

  • Dystonia_Superpanel
  • Neuromuscular Superpanel
  • Tremors_Superpanel
  • review Unknown
    Sources
    • Royal Children's Hospital Neurology Department
    • Expert Review Green
    • Victorian Clinical Genetics Services

    Green KCNJ2 in Skeletal Muscle Channelopathies


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.1

    Component of the following Super Panels:

  • Myopathy Superpanel
  • Neuromuscular Superpanel
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Royal Melbourne Hospital
    Phenotypes
    • Hypokalemic Periodic Paralysis, Type 2
    • Periodic paralysis
    • Andersen syndrome, MIM# 170390
    • Episodic weakness
    • Andersen syndrome

    Green KCNJ2 in Additional findings_Paediatric


    Level 2: Screening
    Version 0.278

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • BabySeq Category A gene
    • Expert Review Green
    Phenotypes
    • Andersen cardiodysrhythmic periodic paralysis

    Green KCNJ2 in Clefting disorders

    Level 3: Dysmorphic disorders
    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 0.252

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Green
    Phenotypes
    • ANDERSEN CARDIODYSRHYTHMIC PERIODIC PARALYSIS
    • Cleft palate

    Green KCNJ2 in Fetal anomalies


    Version 1.255

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Genomics England PanelApp
    Phenotypes
    • Andersen syndrome, OMIM:170390
    • Andersen-Tawil syndrome, MONDO:0008222

    Green KCNJ2 in BabyScreen+ newborn screening


    Level 2: Screening
    Version 1.114

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • BabySeq Category A gene
    Phenotypes
    • Andersen syndrome MIM#170390
    Tags
    • cardiac
    • treatable

    Green KCNJ2 in Transplant Co-Morbidity Superpanel


    Level 2: Screening
    Version 0.18

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Short QT syndrome
    • long QT syndrome
    • Andersen-Tawil syndrome