KCNJ2

potassium inwardly rectifying channel subfamily J member 2
OMIM: 600681, ClinGen, DECIPHER

14 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 14 panels
Green KCNJ2 in Brain Channelopathies Level 2: Neurology and neurodevelopmental disorders Version 2.0	1 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 1.0	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes catecholaminergic polymorphic ventricular tachycardia MONDO:0017990 Tags disputed
Green KCNJ2 in Long QT Syndrome Level 2: Cardiovascular disorders Version 1.0	1 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 2.0	1 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 1.0	0 reviews	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green
Green KCNJ2 in Short QT syndrome Level 2: Cardiovascular disorders Version 2.0	1 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 1.0	1 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 1.0	0 reviews	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 2.0	1 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 1.0	0 reviews	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 1.0	0 reviews	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 2.0	1 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 Genomic newborn screening: BabyScreen+ Level 2: Screening Version 2.0	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green BabySeq Category A gene Phenotypes Andersen syndrome MIM#170390 Tags treatable cardiac
Green KCNJ2 in Transplant Co-Morbidity Level 2: Screening Version 1.0	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Short QT syndrome long QT syndrome Andersen-Tawil syndrome