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  1. Genes and Genomic Entities
  2. KCNJ5

KCNJ5

potassium voltage-gated channel subfamily J member 5
OMIM: 600734, Gene2Phenotype

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 1.3512

    		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 1.16

    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 Genomic newborn screening: BabyScreen+


    Level 2: Screening
    Version 1.140

    		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 1.22

    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