Brain channelopathy
Gene: CACNB4
CACNB4 (calcium voltage-gated channel auxiliary subunit beta 4)
EnsemblGeneIds (GRCh38): ENSG00000182389
EnsemblGeneIds (GRCh37): ENSG00000182389
OMIM: 601949, Gene2Phenotype
CACNB4 is in 14 panels
EnsemblGeneIds (GRCh38): ENSG00000182389
EnsemblGeneIds (GRCh37): ENSG00000182389
OMIM: 601949, Gene2Phenotype
CACNB4 is in 14 panels
3 reviews
Arianna Tucci (Genomics England Curator)
Comment when marking as ready: added 'treatable' tag and changed penetrance to incompleteCreated: 18 Jan 2017, 1:12 p.m.
Arianna Tucci (Department of Molecular Neuroscience, UCL Institute of Neurology, Queen Square)
One truncating mutation in a family with clinical features similar to episodic ataxia 2 (PMID: 10762541). Two mutations (one missense and one truncating) described in two families with myoclonic and/or generalised epilepsy.Created: 6 Jan 2017, 10:17 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
episodic ataxia type 5 (EA5), epilepsy
Publications
Ellen McDonagh (Genomics England Curator)
Comment on list classification: Promoted from red to green as this gene is on the Brain Channel NGS Panel in the UCLH National Hospital for Neurology and Neurosurgery & Institute of Neurology (NHNN) Neurogenetics genetic testing manual.Created: 10 Jun 2016, 3:18 p.m.
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- UKGTN
- Phenotypes
-
- EPISODIC ATAXIA, TYPE 5
- EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 9
- Tags
- OMIM
- 601949
- Clinvar variants
- Variants in CACNB4
- Penetrance
- Incomplete
- Publications
- Panels with this gene
-
- Ataxia and cerebellar anomalies - narrow panel
- Intellectual disability
- Hereditary neuropathy
- Hereditary neuropathy or pain disorder
- Hereditary ataxia with onset in adulthood
- Early onset or syndromic epilepsy
- DDG2P
- Adult onset dystonia, chorea or related movement disorder
- Childhood onset dystonia, chorea or related movement disorder
- Hereditary ataxia
- Brain channelopathy
- Skeletal Muscle Channelopathies
- Adult onset neurodegenerative disorder
- Paroxysmal central nervous system disorders
History Filter Activity
21 Feb 2017, Gel status: 4
Gene classified by Genomics England curator
Arianna Tucci (Genomics England Curator)This gene has been classified as Green List (High Evidence).
23 Jan 2017, Gel status: 4
panel promoted to version 1
Arianna Tucci (Genomics England Curator)Promoted to V1. January 23 2017
18 Jan 2017, Gel status: 4
Gene classified by Genomics England curator
Arianna Tucci (Genomics England Curator)This gene has been classified as Green List (High Evidence).
18 Jan 2017, Gel status: 4
Set publications
Arianna Tucci (Genomics England Curator)Publications for CACNB4 were set to 10762541
18 Jan 2017, Gel status: 4
Set Mode of Inheritance
Arianna Tucci (Genomics England Curator)Mode of inheritance for CACNB4 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
10 Jun 2016, Gel status: 4
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
5 Aug 2015, Gel status: 1
Added New Source
Ellen McDonagh (Genomics England Curator)CACNB4 was added to Brain channelopathypanel. Sources: UKGTN