Genomics England

KCNJ2

potassium voltage-gated channel subfamily J member 2

Panel	Mode of inheritance	Details
Filter panels5 panels
Green in Clefting Component of the following Super Panels: - Paediatric disorders Signed-off version 6.1	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes Andersen syndrome, OMIM:170390, Andersen-Tawil syndrome, MONDO:0008222
Green in Fetal anomalies R-numbers: R21, R412 Signed-off version 4.195	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes Andersen syndrome, OMIM:170390, Andersen-Tawil syndrome, MONDO:0008222
Green in Long QT syndrome 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 R-numbers: R127 Signed-off version 3.9	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	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 in Short QT syndrome 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 R-numbers: R130 Signed-off version 3.13	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	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 in Skeletal muscle channelopathy R-numbers: R76 Signed-off version 3.0	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes Andersen syndrome, OMIM:170390, Andersen-Tawil syndrome, MONDO:0008222, Episodic weakness, Periodic paralysis