This Panel is marked as Retired
Familial Genetic Generalised Epilepsies
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
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Details
- Sources
-
- Radboud University Medical Center, Nijmegen
- Phenotypes
-
- {Epilepsy, juvenile myoclonic, susceptibility to, 6}, 607682{Epilepsy, idiopathic generalized, susceptibility to, 9}, 607682Episodic ataxia, type 5, 613855
- OMIM
- 601949
- Clinvar variants
- Variants in CACNB4
- Penetrance
- Complete
- Panels with this gene
-
- 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
- Early onset or syndromic epilepsy
- DDG2P
- Intellectual disability
- Hereditary ataxia
- Brain channelopathy
- Skeletal Muscle Channelopathies
- Paroxysmal central nervous system disorders
- Hereditary neuropathy or pain disorder
- Adult onset neurodegenerative disorder
History Filter Activity
6 May 2015, Gel status: 1
Added New Source
Eik Haraldsdottir (Genomics England)CACNB4 was added to Familial generalised epilepsypanel. Sources: Radboud University Medical Center, Nijmegen