This Panel is marked as Internal
Test MOI validation panel - do not edit
Gene: CACNA1A
CACNA1A (calcium voltage-gated channel subunit alpha1 A)
EnsemblGeneIds (GRCh38): ENSG00000141837
EnsemblGeneIds (GRCh37): ENSG00000141837
OMIM: 601011, Gene2Phenotype
CACNA1A is in 23 panels
EnsemblGeneIds (GRCh38): ENSG00000141837
EnsemblGeneIds (GRCh37): ENSG00000141837
OMIM: 601011, Gene2Phenotype
CACNA1A is in 23 panels
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Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Literature
- Phenotypes
-
- OMIM test - is biallelic but AD in OMIM
- OMIM
- 601011
- Clinvar variants
- Variants in CACNA1A
- Penetrance
- None
- Panels with this gene
-
- Congenital myaesthenic syndrome
- Infantile nystagmus
- Adult onset neurodegenerative disorder
- Ataxia and cerebellar anomalies - narrow panel
- Skeletal muscle channelopathy
- Paroxysmal central nervous system disorders
- Childhood onset dystonia, chorea or related movement disorder
- Hereditary ataxia with onset in adulthood
- Early onset dystonia
- Intellectual disability
- Hereditary spastic paraplegia
- Early onset or syndromic epilepsy
- Albinism or congenital nystagmus
- Adult onset dystonia, chorea or related movement disorder
- Hereditary ataxia
- Fetal anomalies
- DDG2P
- Brain channelopathy
- Adult onset hereditary spastic paraplegia
- Skeletal Muscle Channelopathies
- Familial cerebral small vessel disease
- Childhood onset hereditary spastic paraplegia
- Familial Meniere Disease
History Filter Activity
20 Oct 2020, Gel status: 3
Entity classified by Genomics England curator
Eleanor Williams (Genomics England Curator)Gene: cacna1a has been classified as Green List (High Evidence).
20 Oct 2020, Gel status: 1
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Eleanor Williams (Genomics England Curator)gene: CACNA1A was added gene: CACNA1A was added to TEST mode of inheritance validation panel. Sources: Literature Mode of inheritance for gene: CACNA1A was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CACNA1A were set to OMIM test - is biallelic but AD in OMIM