Skeletal Muscle Channelopathies
Gene: CACNB4Comment on list classification: Downgraded from Amber to Red. This gene was not submitted as part of the GMS on the Myotonia congenita panel, it is also noted by reviewer Fowzan Alkuraya that they do not think the evidence linking this gene to the intended phenotype for this panel i.e. muscle channelopathy is compellingCreated: 8 Nov 2019, 2:41 p.m. | Last Modified: 8 Nov 2019, 2:41 p.m.
Panel Version: 1.16
I don't think the evidence linking this to the intended phenotype for this panel i.e. msucle channelopathy is compelling. Besides, PLI is very low in ExAC.Created: 22 Feb 2017, 3:38 p.m.
Mode of pathogenicity
Other - please provide details in the comments
I don't think the evidence linking this to the intended phenotype for this panel i.e. msucle channelopathy is compelling. Besides, PLI is very low in ExAC.Created: 22 Feb 2017, 3:31 p.m.
Mode of pathogenicity
Other - please provide details in the comments
this is not a Skeletal Muscle Channelopathies geneCreated: 10 Jan 2017, 3:39 p.m.
Is on the Brain Channel NGS Panel 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, 2:52 p.m.
Gene: cacnb4 has been classified as Red List (Low Evidence).
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).
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).
Model of inheritance for gene CACNB4 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
CACNB4 was added to Skeletal Muscle Channelopathiespanel. Sources: Illumina TruGenome Clinical Sequencing Services
CACNB4 was added to Skeletal Muscle Channelopathiespanel. Sources: Radboud University Medical Center, Nijmegen