Ataxia and cerebellar anomalies - narrow panel
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, imprinted status unknown
- Sources
-
- Expert Review Red
- Phenotypes
-
- Episodic ataxia, type 5
- Episodic Ataxia
- OMIM
- 601949
- Clinvar variants
- Variants in CACNB4
- Penetrance
- None
- Publications
-
- PMC1378014
- 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
- Childhood onset dystonia, chorea or related movement disorder
- Adult onset dystonia, chorea or related movement disorder
- DDG2P
- Hereditary ataxia
- Brain channelopathy
- Skeletal Muscle Channelopathies
- Adult onset neurodegenerative disorder
- Paroxysmal central nervous system disorders
History Filter Activity
9 Jan 2019, Gel status: 1
Panel promoted to version 1.0
Louise Daugherty (Genomics England Curator)Rebecca Foulger: Comment on list classification
19 Dec 2018, Gel status: 1
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Ellen McDonagh (Genomics England Curator)gene: CACNB4 was added gene: CACNB4 was added to Ataxia and cerebellar anomalies - narrow panel. Sources: Expert Review Red Mode of inheritance for gene: CACNB4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: CACNB4 were set to PMC1378014 Phenotypes for gene: CACNB4 were set to Episodic ataxia, type 5; Episodic Ataxia