KCNJ2

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

10 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 10 panels
Green KCNJ2 in Skeletal Muscle Channelopathies Level 3: Channelopathies Level 2: Neurology and neurodevelopmental disorders Version 1.46	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Eligibility statement prior genetic testing UKGTN Phenotypes Andersen syndrome, OMIM:170390 Andersen-Tawil syndrome, MONDO:0008222 Episodic weakness Periodic paralysis
Green KCNJ2 in Brain channelopathy Level 3: Channelopathies Level 2: Neurology and neurodevelopmental disorders Version 1.80	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Phenotypes Andersen syndrome, OMIM:170390 Andersen-Tawil syndrome, MONDO:0008222 Episodic weakness Periodic paralysis
Green KCNJ2 in Short QT syndrome Version 3.12 Latest signed off version: v3.11 (1 May 2024) 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	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources West Midlands, Oxford and Wessex GLH South West GLH London South GLH North West GLH Radboud University Medical Center, Nijmegen UKGTN Expert Review Green Long QT syndrome (Version 1.5) Emory Genetics Laboratory Literature Phenotypes Short QT syndrome 3, OMIM:609622 Short QT syndrome type 3, MONDO:0012314 Atrial fibrillation, familial, 9, OMIM:613980 Atrial fibrillation, familial, 9, MONDO:0013513 Andersen syndrome, OMIM:170390 Andersen-Tawil syndrome, MONDO:0008222
Green KCNJ2 in Long QT syndrome Level 3: Cardiac arrhythmia Level 2: Cardiovascular disorders Version 3.8 Latest signed off version: v3.7 (1 May 2024) 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	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources South West GLH London South GLH North West GLH Expert Review Green UKGTN Emory Genetics Laboratory Expert list Phenotypes Short QT syndrome 3, OMIM:609622 Short QT syndrome type 3, MONDO:0012314 Atrial fibrillation, familial, 9, OMIM:613980 Atrial fibrillation, familial, 9, MONDO:0013513 Andersen syndrome, OMIM:170390 Andersen-Tawil syndrome, MONDO:0008222
Red KCNJ2 in Catecholaminergic polymorphic VT Level 3: Cardiac arrhythmia Level 2: Cardiovascular disorders Version 4.6 Latest signed off version: v4.5 (1 May 2024) 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	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources South West GLH North West GLH UKGTN Expert list Phenotypes catecholaminergic polymorphic ventricular tachycardia, MONDO:0017990
Red KCNJ2 in Paroxysmal central nervous system disorders Version 3.10 Latest signed off version: v3.0 (22 Mar 2023)	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red NHS GMS London North GLH Wessex and West Midlands GLH Phenotypes Andersen syndrome, OMIM:170390 Andersen-Tawil syndrome, MONDO:0008222 Episodic weakness Periodic paralysis
Green KCNJ2 in Skeletal muscle channelopathy Version 3.5 Latest signed off version: v3.0 (22 Mar 2023)	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green NHS GMS London North GLH Phenotypes Andersen syndrome, OMIM:170390 Andersen-Tawil syndrome, MONDO:0008222 Episodic weakness Periodic paralysis
Green KCNJ2 in Fetal anomalies Version 4.1 Latest signed off version: v4.0 (1 May 2024)	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources PAGE Additional Gene List Expert Review Green Phenotypes Andersen syndrome, OMIM:170390 Andersen-Tawil syndrome, MONDO:0008222
Green KCNJ2 in Clefting Level 3: Dysmorphic disorders Level 2: Dysmorphic and congenital abnormality syndromes Version 5.3 Latest signed off version: v5.0 (1 May 2024) Component of the following Super Panels: Paediatric disorders	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Victorian Clinical Genetics Services Expert Review Green Phenotypes Andersen syndrome, OMIM:170390 Andersen-Tawil syndrome, MONDO:0008222
Green KCNJ2 in Severe Paediatric Disorders Version 1.184	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Next Generation Children Project Expert Review Green Expert list Phenotypes Short QT syndrome 3, OMIM:609622 Short QT syndrome type 3, MONDO:0012314 Atrial fibrillation, familial, 9, OMIM:613980 Atrial fibrillation, familial, 9, MONDO:0013513 Andersen syndrome, OMIM:170390 Andersen-Tawil syndrome, MONDO:0008222