This Panel is marked as Internal
Dystonia - childhood onset
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
0 reviews
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Phenotypes
-
- EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 9
- EPISODIC ATAXIA, TYPE 5
- Tags
- OMIM
- 601949
- Clinvar variants
- Variants in CACNB4
- Penetrance
- None
- Publications
- Panels with this gene
-
- Hereditary ataxia with onset in adulthood
- Adult onset dystonia, chorea or related movement disorder
- Adult onset neurodegenerative disorder
- Hereditary ataxia
- DDG2P
- Brain channelopathy
- Skeletal Muscle Channelopathies
- Childhood onset dystonia, chorea or related movement disorder
- Hereditary neuropathy or pain disorder
- Hereditary neuropathy
- Paroxysmal central nervous system disorders
- Intellectual disability
- Ataxia and cerebellar anomalies - narrow panel
- Early onset or syndromic epilepsy
History Filter Activity
9 Jan 2019, Gel status: 4
Panel promoted to version 1.0
Louise Daugherty (Genomics England Curator)Checked against super panel made up of the panel constituents. Ready to promote to version 1
19 Dec 2018, Gel status: 4
Added Tag
Eleanor Williams (Genomics England Curator)Tag treatable tag was added to gene: CACNB4.
19 Dec 2018, Gel status: 4
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Eleanor Williams (Genomics England Curator)gene: CACNB4 was added gene: CACNB4 was added to Dystonia - childhood onset. Sources: Expert Review Green Mode of inheritance for gene: CACNB4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: CACNB4 were set to 10762541 Phenotypes for gene: CACNB4 were set to EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 9; EPISODIC ATAXIA, TYPE 5