Skeletal Muscle Channelopathies
Gene: KCNJ2
Publications
Variants in this GENE are reported as part of current diagnostic practice
Publications
Variants in this GENE are reported as part of current diagnostic practice
Comment when marking as ready: Changed to incomplete penetranceCreated: 21 Jan 2017, 12:52 p.m.
This is a more complex phenotype comprising of periodic paralysis, cardiac arrhythmia, dysmorphismthe disorder. It
shows marked intrafamilial variability and incomplete penetranceCreated: 10 Jan 2017, 2:41 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Andersen syndrome,170390
Publications
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.
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
Promoted 22/02/2017 after curation discussion and further review with members of the Genomics England curation team.
This gene has been classified as Green List (High Evidence).
Publications for KCNJ2 were set to 16217063
Mode of inheritance for KCNJ2 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mode of inheritance for KCNJ2 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for KCNJ2 were set to Hypokalemic Periodic Paralysis, Type 2; Episodic weakness; Periodic paralysis; ANDERSEN CARDIODYSRHYTHMIC PERIODIC PARALYSIS; Andersen syndrome
Phenotypes for KCNJ2 were set to Hypokalemic Periodic Paralysis, Type 2; Episodic weakness; Periodic paralysis
This gene has been classified as Green List (High Evidence).
KCNJ2 was added to Skeletal Muscle Channelopathiespanel. Sources: Eligibility statement prior genetic testing
KCNJ2 was added to Skeletal Muscle Channelopathiespanel. Sources: UKGTN