Skeletal muscle channelopathy
Gene: KCNJ2
Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.Created: 9 May 2019, 4:57 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Andersen syndrome, 170390
Publications
Variants in this GENE are reported as part of current diagnostic practice
Phenotypes for gene: KCNJ2 were changed from Andersen syndrome, 170390 to Andersen syndrome, OMIM:170390; Andersen-Tawil syndrome, MONDO:0008222; Episodic weakness; Periodic paralysis
Publications for gene KCNJ2 were changed from to 16217063; 12796536
Mode of inheritance for gene KCNJ2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Added phenotypes Andersen syndrome, 170390 for gene: KCNJ2
Source Expert Review Green was added to KCNJ2. Rating Changed from Red List (low evidence) to Green List (high evidence)
Source NHS GMS was added to KCNJ2.
gene: KCNJ2 was added gene: KCNJ2 was added to Myotonia congenita. Sources: London North GLH Mode of inheritance for gene: KCNJ2 was set to