Eleanor Williams Added comment: Comment on list classification: Leaving as green for consistency with the GMS Skeletal muscle channelopathy panel (panel 542).
Eleanor Williams Added comment: Comment on list classification: Changing back from red to green, to await advice from Genomics England clinical team as to the appropriateness of this gene for the panel given potential phenotypic overlap with other skeletal muscle channelopathies
Eleanor Williams Added comment: Comment on list classification: Demoting this gene from green to red as variants in this gene are associated with a brain channelopathy rather than a skeletal muscle channelopathy/
Louise Daugherty Added comment: Comment on list classification: Changed from Amber to Green. Since the original review in 2017 there has been more evidence to support variants of this gene resulting in a phenotype suitable for inclusion
Louise Daugherty Added comment: Comment on publications: added publications suggested by external reviwer on Myotonia congenita panel for GMS, new publication in particular new publication March 2018 https://www.ncbi.nlm.nih.gov/pubmed/?term=29442233 gives evidence to support variants of this gene resulting in a phenotype suitable for inclusion, there is also reference to a mouse model here : https://www.ncbi.nlm.nih.gov/pubmed/?term=28688851