Episodic Ataxia
Gene: CACNA1A
CACNA1A (calcium voltage-gated channel subunit alpha1 A)
EnsemblGeneIds (GRCh38): ENSG00000141837
EnsemblGeneIds (GRCh37): ENSG00000141837
OMIM: 601011, Gene2Phenotype
CACNA1A is in 17 panels
EnsemblGeneIds (GRCh38): ENSG00000141837
EnsemblGeneIds (GRCh37): ENSG00000141837
OMIM: 601011, Gene2Phenotype
CACNA1A is in 17 panels
1 review
Bryony Thompson (Royal Melbourne Hospital)
Comment on list classification: Ataxia can be caused by a triplet repeat expansion in this gene, which is not detectable with current WES/WGS technologies. However, SNVs have also been reported as disease-causing.Created: 23 Apr 2020, 4:25 a.m. | Last Modified: 23 Apr 2020, 4:25 a.m.
Panel Version: 0.212
Onset of episodic ataxia usually in childhood or adolescence.
Sources: Expert listCreated: 16 Apr 2020, 10:50 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Episodic ataxia, type 2 MIM#108500
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Expert list
- Expert list
- Phenotypes
-
- Episodic ataxia, type 2 MIM#108500
- Tags
- OMIM
- 601011
- Clinvar variants
- Variants in CACNA1A
- Penetrance
- None
- Panels with this gene
-
- Paroxysmal Dyskinesia
- Brain Channelopathies
- BabyScreen+ newborn screening
- Alternating Hemiplegia and Hemiplegic Migraine
- Congenital nystagmus
- Intellectual disability syndromic and non-syndromic
- Genetic Epilepsy
- Repeat Disorders
- Regression
- Fetal anomalies
- Additional findings_Paediatric
- Dystonia - complex
- Ataxia - adult onset
- Mendeliome
- Ataxia - paediatric
- Cerebral Palsy
- Episodic Ataxia
History Filter Activity
13 Sep 2020, Gel status: 3
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: cacna1a has been classified as Green List (High Evidence).
13 Sep 2020, Gel status: 3
Added Tag
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Tag STR tag was added to gene: CACNA1A.
29 Jun 2020, Gel status: 3
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: cacna1a has been classified as Green List (High Evidence).
29 Jun 2020, Gel status: 1
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)gene: CACNA1A was added gene: CACNA1A was added to Episodic Ataxia. Sources: Expert list Mode of inheritance for gene: CACNA1A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: CACNA1A were set to Episodic ataxia, type 2 MIM#108500