Skeletal muscle channelopathy
Gene: CACNA1AEnsemblGeneIds (GRCh38): ENSG00000141837
EnsemblGeneIds (GRCh37): ENSG00000141837
OMIM: 601011, Gene2Phenotype
CACNA1A is in 23 panels
5 reviews
Arina Puzriakova (Genomics England Curator)
The rating of this gene has been updated to Red following NHS Genomic Medicine Service approval.Created: 1 Feb 2023, 3:16 p.m. | Last Modified: 1 Feb 2023, 3:16 p.m.
Panel Version: 2.4
Eleanor Williams (Genomics England Curator)
Comment on list classification: Leaving rating as Green but with a recommendation for review by the GMS test evaluation group as to suitability for this panel. As reported by Zornitza Stark variants in this gene appear to be associated with brain channelopathies rather than skeletal muscle.Created: 9 Jun 2021, 9:49 a.m. | Last Modified: 20 Jul 2021, 2:01 p.m.
Panel Version: 1.31
Review of case reports following expert review by Zornitiza Stark
PMID: 29442233 - Park et al 2018 - report of a patient with episodic ataxia 2 presenting with periodic paralysis and a de novo frameshift mutation in CACNA1A. The patient exhibited oculomotor signs of cerebellar dysfunction.
PMID: 17575281 - Jen et al 2007 - review of cases associated with CACNA1A variants relating to Familial hemiplegic migraine, Episodic ataxia and Spinocerebellar ataxia type 6.
PMID: 8734765 - Terwindt et al 1996 - 3 families with familial hemiplegic migraine linked to chr 19. Abstract only accessed.Created: 9 Jun 2021, 9:47 a.m. | Last Modified: 9 Jun 2021, 9:47 a.m.
Panel Version: 1.24
Zornitza Stark (Australian Genomics)
Well established gene-disease association but predominantly a brain rather than skeletal muscle channelopathy.Created: 20 Aug 2020, 8:45 a.m. | Last Modified: 20 Aug 2020, 8:45 a.m.
Panel Version: 1.4
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Episodic ataxia, type 2, MIM# 108500
Louise Daugherty (Genomics England Curator)
Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.Created: 9 May 2019, 4:57 p.m.
James Polke (Neurogenetics Laboratory, Institute of Neurology, London)
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Episodic ataxia 2 with periodic paralysis; Episodic ataxia, type 2, 108500; Migraine, familial hemiplegic, 1, 141500; Epileptic encephalopathy, early infantile, 42, 617106
Publications
- Park et al 2018 Acta Neurologica Belgica 118, 137-139 PMID: 29442233. Jen et al 2007 Brain 130, 2484-93 PMID: 17575281. Terwindt et al 1996 Cephalalgia 16, 153-5 PMID: 8734765
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Red
- NHS GMS
- London North GLH
- 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
Removed Tag, Removed Tag, Removed Tag
Arina Puzriakova (Genomics England Curator)Tag Q2_21_rating was removed from gene: CACNA1A. Tag Q2_21_phenotype was removed from gene: CACNA1A. Tag Q2_21_expert_review was removed from gene: CACNA1A.
Added New Source, Status Update
Arina Puzriakova (Genomics England Curator)Source Expert Review Red was added to CACNA1A. Rating Changed from Green List (high evidence) to Red List (low evidence)
Added Tag, Added Tag
Eleanor Williams (Genomics England Curator)Tag Q2_21_rating tag was added to gene: CACNA1A. Tag Q2_21_expert_review tag was added to gene: CACNA1A.
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: CACNA1A were changed from Episodic ataxia 2 with periodic paralysis; Epileptic encephalopathy, early infantile, 42 OMIM:617106; Migraine, familial hemiplegic, 1 OMIM:141500; Episodic ataxia, type 2 OMIM:108500 to Episodic ataxia, type 2, OMIM:108500; Migraine, familial hemiplegic, 1, OMIM:141500; Migraine, familial hemiplegic, 1, with progressive cerebellar ataxia, OMIM:141500
Removed Tag
Eleanor Williams (Genomics England Curator)Tag Q2_21_rating was removed from gene: CACNA1A.
Entity classified by Genomics England curator
Eleanor Williams (Genomics England Curator)Gene: cacna1a has been classified as Green List (High Evidence).
Added Tag, Added Tag
Eleanor Williams (Genomics England Curator)Tag Q2_21_rating tag was added to gene: CACNA1A. Tag Q2_21_phenotype tag was added to gene: CACNA1A.
Set Phenotypes
Eleanor Williams (Genomics England Curator)Phenotypes for gene: CACNA1A were changed from Episodic ataxia 2 with periodic paralysis; Epileptic encephalopathy, early infantile, 42, 617106; Migraine, familial hemiplegic, 1, 141500; Episodic ataxia, type 2, 108500 to Episodic ataxia 2 with periodic paralysis; Epileptic encephalopathy, early infantile, 42 OMIM:617106; Migraine, familial hemiplegic, 1 OMIM:141500; Episodic ataxia, type 2 OMIM:108500
Set publications
Louise Daugherty (Genomics England Curator)Publications for gene CACNA1A were changed from to 29442233; 8734765; 17575281
Set mode of inheritance, Set Phenotypes
Louise Daugherty (Genomics England Curator)Mode of inheritance for gene CACNA1A was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Added phenotypes Episodic ataxia 2 with periodic paralysis; Epileptic encephalopathy, early infantile, 42, 617106; Migraine, familial hemiplegic, 1, 141500; Episodic ataxia, type 2, 108500 for gene: CACNA1A
Added New Source, Status Update
Louise Daugherty (Genomics England Curator)Source Expert Review Green was added to CACNA1A. Rating Changed from Red List (low evidence) to Green List (high evidence)
Added New Source
Louise Daugherty (Genomics England Curator)Source NHS GMS was added to CACNA1A.
Created, Added New Source, Set mode of inheritance
Louise Daugherty (Genomics England Curator)gene: CACNA1A was added gene: CACNA1A was added to Myotonia congenita. Sources: London North GLH Mode of inheritance for gene: CACNA1A was set to