Skeletal Muscle Channelopathies
Gene: KCNJ5This gene was reviewed again in view of potential inclusion on on GMS Myotonia congenita panel, however it was felt that this gene should no be included on that panel. Genomics England clinical team noted that Hyperaldosteronism, familial, type III should be relatively easy to distinguish clinically in view of the presence of severe hypertension and low potassium as the primary problems, which can lead to muscle weakness. Therefore, did not think it was a clear fit for this panel so should leave it as amberCreated: 8 Nov 2019, 2:49 p.m. | Last Modified: 8 Nov 2019, 2:49 p.m.
Panel Version: 1.17
Comment when marking as ready: Marked as amber as the relevant phenotype is not in OMIM, but functionally is a good candidateCreated: 22 Feb 2017, 4:44 p.m.
This gene was suggested by expert reviewer Dr MatthewsCreated: 21 Feb 2017, 1:29 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Promoted 22/02/2017 after curation discussion and further review with members of the Genomics England curation team.
This gene has been classified as Amber List (Moderate Evidence).
This gene has been classified as Amber List (Moderate Evidence).
KCNJ5 was added to Skeletal Muscle Channelopathiespanel. Sources: Expert Review
KCNJ5 was created by arianna