Skeletal Muscle Channelopathies

Gene: KCNJ18

Ensembl identifier not available for GRCh37(release 82)

Created: 8 Jul 2020, 12:58 p.m. | Last Modified: 8 Jul 2020, 12:58 p.m.

Panel Version: 1.21

Red List (low evidence)

Please see PMID: 27008341

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

Publications

• 20074522

Red List (low evidence)

Please see PMID: 27008341

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

Publications

• 20074522

Comment when marking as ready: Marked as red as not enough evidence of association with the relevant disorder

Created: 22 Feb 2017, 4:42 p.m.

Green List (high evidence)

5 different mutations identified in sporadic patients with thyrotoxic periodic paralysis (R399X; Q407X; T354M; K366R; I144fs). no segregation shown. functional data are not fully supportive of pathogenicity, especially for missense mutations

Created: 10 Jan 2017, 3:58 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Thyrotoxic periodic paralysis

Publications

• 20074522

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 Thyrotoxic Hypokalaemic Periodic Paralysis (Only available on a research basis at present).

Created: 10 Jun 2016, 2:44 p.m.

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, 2:42 p.m.