PanelApp (staging)
  1. Genes and Genomic Entities
  2. KCNJ5

KCNJ5

potassium voltage-gated channel subfamily J member 5
OMIM: 600734, ClinGen, DECIPHER

7 panels

Panel Reviews Mode of inheritance Details
7 panels

Red KCNJ5 in Long QT Syndrome


Level 2: Cardiovascular disorders
Version 0.61

Component of the following Super Panels:

  • Adult Cardiac SuperPanel
  • Arrhythmia_SuperPanel

    		•  1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Red
    • Victorian Clinical Genetics Services
    Phenotypes
    • Long QT syndrome 13, MIM# 613485
    Tags
    • disputed

    Green KCNJ5 in Mendeliome


    Version 1.2302

    		1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Expert Review
    Phenotypes
    • Hyperaldosteronism, familial, type III, MIM# 613677

    Green KCNJ5 in Hypertension and Aldosterone disorders


    Level 2: Renal and urinary tract disorders; Endocrine disorders
    Version 1.15

    Component of the following Super Panels:

  • Kidneyome_SuperPanel

    		•  1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • KidGen_AldoHypertension v38.1.0
    Phenotypes
    • Hyperaldosteronism, familial, type III, MIM# 613677

    Red KCNJ5 in Skeletal Muscle Channelopathies


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.1

    Component of the following Super Panels:

  • Myopathy Superpanel
  • Neuromuscular Superpanel

    		•  1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Red
    • Expert list
    Phenotypes
    • Andersen-Tawil Syndrome
    • periodic muscle paralysis

    Red KCNJ5 in Additional findings_Paediatric


    Level 2: Screening
    Version 0.278

    		0 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Red
    • BabySeq Category C gene
    Phenotypes
    • Long QT syndrome

    Red KCNJ5 in BabyScreen+ newborn screening


    Level 2: Screening
    Version 1.116

    		0 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • BabySeq Category C gene
    • Expert Review Red
    Phenotypes
    • Long QT syndrome

    Green KCNJ5 in Renal Tubulopathies and related disorders


    Level 2: Renal and urinary tract disorders
    Version 1.17

    Component of the following Super Panels:

  • Kidneyome_SuperPanel

    		•  1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • KidGen_AldoHypertension v38.1.0
    • Expert Review Green
    • KidGen_AldoHypertension v38.1.0
    Phenotypes
    • Hyperaldosteronism, familial, type III, MIM# 613677