Adult onset dystonia, chorea or related movement disorder
Gene: CACNA1AEnsemblGeneIds (GRCh38): ENSG00000141837
EnsemblGeneIds (GRCh37): ENSG00000141837
OMIM: 601011, Gene2Phenotype
CACNA1A is in 23 panels
2 reviews
Louise Daugherty (Genomics England Curator)
Review and rating submitted by James Polke (North Bristol NHS Trust), unless specified in the review comment, on behalf of London North GLH for GMS Neurology specialist test group.Created: 23 Apr 2019, 1:19 p.m.
James Polke (Neurogenetics Laboratory, Institute of Neurology, London)
Suggested by Huw and RacquelCreated: 23 Apr 2019, 1:13 p.m.
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- NHS GMS
- London North GLH
- Expert Review Green
- Phenotypes
-
- Episodic ataxia, type 2, OMIM:108500
- Migraine, familial hemiplegic, 1, OMIM:141500
- Migraine, familial hemiplegic, 1, with progressive cerebellar ataxia, OMIM:141500
- OMIM
- 601011
- Clinvar variants
- Variants in CACNA1A
- Penetrance
- None
- Publications
- Panels with this gene
-
- Adult onset dystonia, chorea or related movement disorder
- Early onset or syndromic epilepsy
- DDG2P
- Infantile nystagmus
- Intellectual disability
- 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
- Brain channelopathy
- Skeletal Muscle Channelopathies
- Fetal anomalies
- Familial cerebral small vessel disease
- Paroxysmal central nervous system disorders
- Childhood onset hereditary spastic paraplegia
- 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, OMIM:108500; Spinocerebellar ataxia 6, OMIM:183086; Migraine, familial hemiplegic, 1, OMIM:141500; Migraine, familial hemiplegic, 1, with progressive cerebellar ataxia, OMIM:141500 to Episodic ataxia, type 2, OMIM:108500; Migraine, familial hemiplegic, 1, OMIM:141500; Migraine, familial hemiplegic, 1, with progressive cerebellar ataxia, OMIM:141500
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: CACNA1A were changed from familial hemiplegic migraine type 1, 141500; episodic ataxia type 2 (EA2),108500 to Episodic ataxia, type 2, OMIM:108500; Spinocerebellar ataxia 6, OMIM:183086; Migraine, familial hemiplegic, 1, OMIM:141500; Migraine, familial hemiplegic, 1, with progressive cerebellar ataxia, OMIM:141500
Added New Source
Louise Daugherty (Genomics England Curator)Source NHS GMS was added to CACNA1A.
Added New Source
Louise Daugherty (Genomics England Curator)Source London North GLH was added to CACNA1A.
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Ellen McDonagh (Genomics England Curator)gene: CACNA1A was added gene: CACNA1A was added to Adult onset movement disorder. Sources: Expert Review Green Mode of inheritance for gene: CACNA1A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: CACNA1A were set to 17575281; 21734179 Phenotypes for gene: CACNA1A were set to familial hemiplegic migraine type 1, 141500; episodic ataxia type 2 (EA2),108500