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Skeletal Muscle Channelopathies
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

5 reviews

Fowzan ALKURAYA (King Faisal Specialist Hospital and Research Center)

Green List (high evidence)

Publications

16217063

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

Created: 22 Feb 2017, 3:38 p.m.

Panel version: 0.62

Fowzan ALKURAYA (King Faisal Specialist Hospital and Research Center)

Green List (high evidence)

Publications

16217063

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

Created: 22 Feb 2017, 3:31 p.m.

Panel version: 0.62

Arianna Tucci (Genomics England Curator)

Comment when marking as ready: Changed to incomplete penetrance
Created: 21 Jan 2017, 12:52 p.m.

Created: 21 Jan 2017, 12:52 p.m.

Panel version: 0.36

Arianna Tucci (Department of Molecular Neuroscience, UCL Institute of Neurology, Queen Square)

Green List (high evidence)

This is a more complex phenotype comprising of periodic paralysis, cardiac arrhythmia, dysmorphismthe disorder. It
shows marked intrafamilial variability and incomplete penetrance
Created: 10 Jan 2017, 2:41 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Andersen syndrome,170390

Publications

16217063

Created: 10 Jan 2017, 2:41 p.m.

Panel version: 0.22

Ellen McDonagh (Genomics England Curator)

Is on the Muscle Channel NGS Panel in the UCLH National Hospital for Neurology and Neurosurgery & Institute of Neurology (NHNN) Neurogenetics genetic testing manual.
Created: 10 Jun 2016, 2:44 p.m.

Comment on mode of inheritance: Sourced from OMIM.
Created: 10 Jun 2016, 2:19 p.m.

Comment on list classification: This gene is in the genetic muscle channel diseases section in the UCLH National Hospital for Neurology and Neurosurgery & Institute of Neurology (NHNN) Neurogenetics genetic testing manual, for testing of Periodic paralysis, one of the main skeletal muscle channelopathies.
Created: 10 Jun 2016, 2:14 p.m.

Created: 10 Jun 2016, 2:14 p.m.

Panel version: 0.2

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Expert Review Green
Eligibility statement prior genetic testing
UKGTN

Phenotypes

Andersen syndrome, OMIM:170390
Andersen-Tawil syndrome, MONDO:0008222
Episodic weakness
Periodic paralysis

OMIM

600681

Clinvar variants

Variants in KCNJ2

Penetrance

Incomplete

Publications

16217063

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 Hypokalemic Periodic Paralysis, Type 2; Episodic weakness; Periodic paralysis; ANDERSEN CARDIODYSRHYTHMIC PERIODIC PARALYSIS; Andersen syndrome to Andersen syndrome, OMIM:170390; Andersen-Tawil syndrome, MONDO:0008222; Episodic weakness; Periodic paralysis

22 Feb 2017, Gel status: 4

panel promoted to version 1

Arianna Tucci (Genomics England Curator)

Promoted 22/02/2017 after curation discussion and further review with members of the Genomics England curation team.

21 Jan 2017, Gel status: 4

Gene classified by Genomics England curator

Arianna Tucci (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

21 Jan 2017, Gel status: 4

Set publications

Arianna Tucci (Genomics England Curator)

Publications for KCNJ2 were set to 16217063

21 Jan 2017, Gel status: 4

Set Mode of Inheritance

Arianna Tucci (Genomics England Curator)

Mode of inheritance for KCNJ2 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

10 Jun 2016, Gel status: 4