Brain channelopathyGene: KCNJ2
Comment on list classification: New gene added by Zornitza Stark. Rating Green as there are sufficient unrelated cases (>3) with monoallelic variants in this potassium channel gene. KCNJ2 is also Green on the 'Skeletal muscle channelopathy v1.6' GMS panel.
Created: 24 Dec 2020, 2:29 p.m. | Last Modified: 24 Dec 2020, 2:29 p.m.
Panel Version: 1.58
Multisystem channelopathy characterised by periodic paralysis as well as ventricular arrhythmias, and distinctive dysmorphic facial or skeletal features. > 10 families reported, well established gene-disease association.
Sources: Expert list
Created: 20 Aug 2020, 7:56 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Andersen syndrome, MIM# 170390
Phenotypes for gene: KCNJ2 were changed from Andersen syndrome, MIM# 170390 to Andersen syndrome, OMIM:170390; Andersen-Tawil syndrome, MONDO:0008222; Episodic weakness; Periodic paralysis
Gene: kcnj2 has been classified as Green List (High Evidence).
gene: KCNJ2 was added gene: KCNJ2 was added to Brain channelopathy. Sources: Expert list Mode of inheritance for gene: KCNJ2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: KCNJ2 were set to 16217063; 16571646; 16419128; 17324964 Phenotypes for gene: KCNJ2 were set to Andersen syndrome, MIM# 170390 Review for gene: KCNJ2 was set to GREEN