Skeletal muscle channelopathy
Gene: KCNJ2

KCNJ2 (potassium voltage-gated channel subfamily J member 2)
EnsemblGeneIds (GRCh38): ENSG00000123700
EnsemblGeneIds (GRCh37): ENSG00000123700
OMIM: 600681, Gene2Phenotype
KCNJ2 is in 10 panels

2 reviews

Louise Daugherty (Genomics England Curator)

I don't know

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.

Created: 28 Apr 2019, 5:07 p.m.

Panel version: 0.7

James Polke (Neurogenetics Laboratory, Institute of Neurology, London)

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Andersen syndrome, 170390

Publications

Davies et al 2005 Neurology 11, 1083-9 PMID: 16217063. Donaldson et al 2003 Neurology 10, 1811-6 PMID: 12796536

Variants in this GENE are reported as part of current diagnostic practice

Created: 28 Apr 2019, 5:05 p.m.

Panel version: 0.15

Details

Mode of Inheritance

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

OMIM

600681

Clinvar variants

Variants in KCNJ2

Penetrance

None

Publications

Panels with this gene

History Filter Activity

24 Dec 2020, Gel status: 3

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: KCNJ2 were changed from Andersen syndrome, 170390 to Andersen syndrome, OMIM:170390; Andersen-Tawil syndrome, MONDO:0008222; Episodic weakness; Periodic paralysis

25 Oct 2019, Gel status: 3