Skeletal Muscle Channelopathies

Gene: KCNJ5

This 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 amber

Created: 8 Nov 2019, 2:49 p.m. | Last Modified: 8 Nov 2019, 2:49 p.m.

Panel Version: 1.17

Green List (high evidence)

Comment when marking as ready: Marked as amber as the relevant phenotype is not in OMIM, but functionally is a good candidate

Created: 22 Feb 2017, 4:44 p.m.

This gene was suggested by expert reviewer Dr Matthews

Created: 21 Feb 2017, 1:29 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted