Skeletal Muscle Channelopathies

Gene: CACNA1A

Comment on list classification: Leaving as green for consistency with the GMS Skeletal muscle channelopathy panel (panel 542).

Created: 20 Jul 2021, 2:05 p.m. | Last Modified: 20 Jul 2021, 2:05 p.m.

Panel Version: 1.36

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

Created: 9 Jun 2021, 3:28 p.m. | Last Modified: 9 Jun 2021, 3:28 p.m.

Panel Version: 1.31

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/

Created: 9 Jun 2021, 9:55 a.m. | Last Modified: 9 Jun 2021, 9:55 a.m.

Panel Version: 1.29

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

Created: 8 Nov 2019, 2:37 p.m. | Last Modified: 8 Nov 2019, 2:37 p.m.

Panel Version: 1.15

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

Created: 8 Nov 2019, 2:37 p.m. | Last Modified: 8 Nov 2019, 2:37 p.m.

Panel Version: 1.14

Red List (low evidence)

I don't think the evidence linking this to in the intended phenotype for this panel i.e. msucle channelopathy is compelling. On the other hand, the link to epileptic encephalopathy is quite robust and we do report de novo variants in this gene in that context.

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

Variants in this GENE are reported as part of current diagnostic practice

Red List (low evidence)

I don't think the evidence linking this to in the intended phenotype for this panel i.e. msucle channelopathy is compelling. On the other hand, the link to epileptic encephalopathy is quite robust and we do report de novo variants in this gene in that context.

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

Variants in this GENE are reported as part of current diagnostic practice

Red List (low evidence)

this is not a Skeletal Muscle Channelopathies gene

Created: 10 Jan 2017, 3:38 p.m.

Is on the Brain Channel NGS Panel, and under Episodic ataxia: Type 1 testing, and Autosomal Dominant Spinocereballar Ataxia: 1,2,3,6,7, 12, 17 testing, in the UCLH National Hospital for Neurology and Neurosurgery & Institute of Neurology (NHNN) Neurogenetics genetic testing manual, I am therefore unsure whether this should be included on this panel.

Created: 10 Jun 2016, 2:51 p.m.