Familial cerebral small vessel disease
Gene: CACNA1AEnsemblGeneIds (GRCh38): ENSG00000141837
EnsemblGeneIds (GRCh37): ENSG00000141837
OMIM: 601011, Gene2Phenotype
CACNA1A is in 23 panels
2 reviews
Sarah Leigh (Genomics England Curator)
Comment when marking as ready: Numerous variants reported for this phenotypeCreated: 1 Jul 2016, 5:10 p.m.
Comment on list classification: Tier 1 gene for Cerebral Small Vessel Disorders in BRIDGE StudyCreated: 1 Jul 2016, 5:10 p.m.
Rhea Tan (University of Cambridge)
White matter hyperintensities on T2-weighted imaging have been described in one family with autosomal dominant Familial Hemiplegic Migraine, and in an individual with compound heterozygous mutations in the CACNA1A gene and early-onset epileptic encephalopathyCreated: 30 Jun 2016, 8:48 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Familial Hemiplegic Migraine; epilepsy; encephalopathy
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert list
- Expert Review Green
- UKGTN
- Radboud University Medical Center, Nijmegen
- Phenotypes
-
- Migraine, familial hemiplegic, 1, OMIM:141500
- Migraine, familial hemiplegic, 1, with progressive cerebellar ataxia, OMIM:141500
- OMIM
- 601011
- Clinvar variants
- Variants in CACNA1A
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Adult onset dystonia, chorea or related movement disorder
- DDG2P
- Infantile nystagmus
- Skeletal muscle channelopathy
- Adult onset neurodegenerative disorder
- Hereditary ataxia with onset in adulthood
- Early onset dystonia
- Ataxia and cerebellar anomalies - narrow panel
- Hereditary spastic paraplegia
- Albinism or congenital nystagmus
- Adult onset hereditary spastic paraplegia
- Hereditary ataxia
- Early onset or syndromic epilepsy
- Brain channelopathy
- Skeletal Muscle Channelopathies
- Fetal anomalies
- Familial cerebral small vessel disease
- Paroxysmal central nervous system disorders
- Childhood onset hereditary spastic paraplegia
- Intellectual disability
- Familial Meniere Disease
- Congenital myaesthenic syndrome
- Childhood onset dystonia, chorea or related movement disorder
History Filter Activity
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: CACNA1A were changed from Episodic ataxia, type 2 108500; Migraine, familial hemiplegic, 1 141500 AD; Migraine, familial hemiplegic, 1, with progressive cerebellar ataxia 141500; Spinocerebellar ataxia 6 183086 to Migraine, familial hemiplegic, 1, OMIM:141500; Migraine, familial hemiplegic, 1, with progressive cerebellar ataxia, OMIM:141500
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for CACNA1A were set to Episodic ataxia, type 2 108500; Migraine, familial hemiplegic, 1 141500 AD; Migraine, familial hemiplegic, 1, with progressive cerebellar ataxia 141500; Spinocerebellar ataxia 6 183086
Set publications
Sarah Leigh (Genomics England Curator)Publications for CACNA1A were set to 20682717; 12756131; 27250579
Upload gene information
Sarah Leigh (Genomics England Curator)CACNA1A was added to Familial cerebral small vessel diseasepanel. Sources: Expert list
Gene classified by Genomics England curator
Sarah Leigh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Gene classified by Genomics England curator
Sarah Leigh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Upload gene information
Sarah Leigh (Genomics England Curator)CACNA1A was added to Familial cerebral small vessel diseasepanel. Sources: Radboud University Medical Center, Nijmegen,UKGTN
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for CACNA1A were set to Migraine, familial hemiplegic, 1 141500; Migraine, familial hemiplegic, 1, with progressive cerebellar ataxia 141500; cerebral small vessel disease
Added New Source
Rhea Tan (University of Cambridge)CACNA1A was added to Familial cerebral small vessel diseasepanel. Sources: Literature
Created
Rhea Tan (University of Cambridge)CACNA1A was created by rheatan