Early onset dystonia
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
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Emory Genetics Laboratory
- Phenotypes
-
- Episodic ataxia, type 2, OMIM:108500
- OMIM
- 601011
- Clinvar variants
- Variants in CACNA1A
- Penetrance
- Complete
- Panels with this gene
-
- Hereditary spastic paraplegia, adult onset
- Early onset or syndromic epilepsy
- Infantile nystagmus
- Congenital myaesthenic syndrome
- Hereditary ataxia
- Skeletal muscle channelopathy
- Hereditary spastic paraplegia, childhood onset
- Early onset dystonia
- Intellectual disability
- Fetal anomalies
- Dystonia, chorea or related movement disorder, childhood onset
- Dystonia, chorea or related movement disorder, adult onset
- Hereditary spastic paraplegia
- Albinism or congenital nystagmus
- DDG2P
- Brain channelopathy
- Ataxia and cerebellar anomalies - childhood onset
- Skeletal Muscle Channelopathies
- Neurodegenerative disorders, adult onset
- Hereditary ataxia, adult onset
- Familial cerebral small vessel disease
- Paroxysmal central nervous system disorders
- Familial Meniere Disease
History Filter Activity
8 Nov 2021, Gel status: 1
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: CACNA1A were changed from Dystonia to Episodic ataxia, type 2, OMIM:108500
8 Nov 2021, Gel status: 1
Set mode of inheritance
Arina Puzriakova (Genomics England Curator)Mode of inheritance for gene: CACNA1A was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
17 Oct 2016, Gel status: 1
panel promoted to version 1
Ellen McDonagh (Genomics England Curator)17th Oct 2016: Promoted to version 1. The panel was revised after expert input and internal discussion with the clinical team. Other panels such as hereditary ataxia or dementia may be applied in conjunction with this panel where appropriate for genome analysis.
28 Apr 2015, Gel status: 1
Added New Source
GEL ()CACNA1A was added to Early onset dystoniapanel. Sources: Emory Genetics Laboratory