Skeletal Muscle Channelopathies
Gene: KCNJ18Ensembl 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
Please see PMID: 27008341Created: 22 Feb 2017, 3:38 p.m.
Publications
Please see PMID: 27008341Created: 22 Feb 2017, 3:31 p.m.
Publications
Comment when marking as ready: Marked as red as not enough evidence of association with the relevant disorderCreated: 22 Feb 2017, 4:42 p.m.
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 mutationsCreated: 10 Jan 2017, 3:58 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Thyrotoxic periodic paralysis
Publications
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.
Tag ensembl_ids_known_missing tag was added to gene: KCNJ18.
Promoted 22/02/2017 after curation discussion and further review with members of the Genomics England curation team.
This gene has been classified as Red List (Low Evidence).
This gene has been classified as Red List (Low Evidence).
This gene has been classified as Red List (Low Evidence).
This gene has been classified as Amber List (Moderate Evidence).
Publications for KCNJ18 were set to 20074522
This gene has been classified as Amber List (Moderate Evidence).
This gene has been classified as Amber List (Moderate Evidence).
KCNJ18 was added to Skeletal Muscle Channelopathiespanel. Sources: UKGTN