Skeletal Muscle Channelopathies
Gene: CACNB4EnsemblGeneIds (GRCh38): ENSG00000182389
EnsemblGeneIds (GRCh37): ENSG00000182389
OMIM: 601949, Gene2Phenotype
CACNB4 is in 14 panels
5 reviews
Louise Daugherty (Genomics England Curator)
Comment 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
Fowzan ALKURAYA (King Faisal Specialist Hospital and Research Center)
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
Fowzan ALKURAYA (King Faisal Specialist Hospital and Research Center)
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
Arianna Tucci (Department of Molecular Neuroscience, UCL Institute of Neurology, Queen Square)
this is not a Skeletal Muscle Channelopathies geneCreated: 10 Jan 2017, 3:39 p.m.
Ellen McDonagh (Genomics England Curator)
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.
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Red
- Illumina TruGenome Clinical Sequencing Services
- Radboud University Medical Center, Nijmegen
- Phenotypes
-
- {Epilepsy, juvenile myoclonic, susceptibility to, 6}, 607682
- {Epilepsy, idiopathic generalized, susceptibility to, 9}, 607682
- Episodic ataxia, type 5, 613855
- Episodic Ataxia
- OMIM
- 601949
- Clinvar variants
- Variants in CACNB4
- Penetrance
- Complete
- Panels with this gene
-
- Intellectual disability
- Childhood onset dystonia, chorea or related movement disorder
- Hereditary ataxia with onset in adulthood
- Hereditary neuropathy
- Adult onset dystonia, chorea or related movement disorder
- Ataxia and cerebellar anomalies - narrow panel
- DDG2P
- Hereditary ataxia
- Early onset or syndromic epilepsy
- Brain channelopathy
- Skeletal Muscle Channelopathies
- Paroxysmal central nervous system disorders
- Hereditary neuropathy or pain disorder
- Adult onset neurodegenerative disorder
History Filter Activity
Entity classified by Genomics England curator
Louise Daugherty (Genomics England Curator)Gene: cacnb4 has been classified as Red List (Low Evidence).
panel promoted to version 1
Arianna Tucci (Genomics England Curator)Promoted 22/02/2017 after curation discussion and further review with members of the Genomics England curation team.
Gene classified by Genomics England curator
Arianna Tucci (Genomics England Curator)This gene has been classified as Amber List (Moderate Evidence).
Gene classified by Genomics England curator
Arianna Tucci (Genomics England Curator)This gene has been classified as Amber List (Moderate Evidence).
Gene classified by Genomics England curator
Arianna Tucci (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
Gene classified by Genomics England curator
Arianna Tucci (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
Gene classified by Genomics England curator
Arianna Tucci (Genomics England Curator)This gene has been classified as Amber List (Moderate Evidence).
Set Mode of Inheritance
Eik Haraldsdottir (Genomics England)Model of inheritance for gene CACNB4 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added New Source
Eik Haraldsdottir (Genomics England)CACNB4 was added to Skeletal Muscle Channelopathiespanel. Sources: Illumina TruGenome Clinical Sequencing Services
Added New Source
Eik Haraldsdottir (Genomics England)CACNB4 was added to Skeletal Muscle Channelopathiespanel. Sources: Radboud University Medical Center, Nijmegen