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  3. KCNJ2
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Skeletal Muscle Channelopathies

Gene: KCNJ2

Green List (high evidence)
KCNJ2 (potassium voltage-gated channel subfamily J member 2)
EnsemblGeneIds (GRCh38): ENSG00000123700
EnsemblGeneIds (GRCh37): ENSG00000123700
OMIM: 600681, Gene2Phenotype
KCNJ2 is in 14 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Andersen-Tawil syndrome is an autosomal dominant multisystem channelopathy characterized by periodic paralysis, ventricular arrhythmias, and distinctive dysmorphic facial or skeletal features. Hypoplastic kidney and valvular heart disease have also been reported. The disorder shows marked intrafamilial variability and incomplete penetrance.

Well established gene-disease association.
Created: 16 Jan 2021, 11:53 p.m. | Last Modified: 16 Jan 2021, 11:53 p.m.
Panel Version: 0.22

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Andersen syndrome, MIM# 170390

Publications

Created: 16 Jan 2021, 11:53 p.m.
Last Modified: 16 Jan 2021, 11:53 p.m.
Panel version: 0.22

Details

Mode of Inheritance
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
OMIM
600681
Clinvar variants
Variants in KCNJ2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

16 Jan 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: kcnj2 has been classified as Green List (High Evidence).

16 Jan 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: KCNJ2 were changed from Hypokalemic Periodic Paralysis, Type 2; Periodic paralysis; ANDERSEN CARDIODYSRHYTHMIC PERIODIC PARALYSIS; Episodic weakness; Andersen syndrome to Hypokalemic Periodic Paralysis, Type 2; Periodic paralysis; Andersen syndrome, MIM# 170390; Episodic weakness; Andersen syndrome

16 Jan 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: KCNJ2 were set to

30 Dec 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Bryony Thompson (Royal Melbourne Hospital)

gene: KCNJ2 was added gene: KCNJ2 was added to Skeletal Muscle Channelopathies_RMH. Sources: Expert Review Green,Royal Melbourne Hospital Mode of inheritance for gene: KCNJ2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: KCNJ2 were set to Hypokalemic Periodic Paralysis, Type 2; Periodic paralysis; ANDERSEN CARDIODYSRHYTHMIC PERIODIC PARALYSIS; Episodic weakness; Andersen syndrome