Skeletal muscle channelopathy
Gene: CACNA1A
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
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
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
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.
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
Variants in this GENE are reported as part of current diagnostic practice
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.
Source Expert Review Red was added to CACNA1A. Rating Changed from Green List (high evidence) to Red List (low evidence)
Tag Q2_21_rating tag was added to gene: CACNA1A. Tag Q2_21_expert_review tag was added to gene: CACNA1A.
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
Tag Q2_21_rating was removed from gene: CACNA1A.
Gene: cacna1a has been classified as Green List (High Evidence).
Tag Q2_21_rating tag was added to gene: CACNA1A. Tag Q2_21_phenotype tag was added to gene: CACNA1A.
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
Publications for gene CACNA1A were changed from to 29442233; 8734765; 17575281
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
Source Expert Review Green was added to CACNA1A. Rating Changed from Red List (low evidence) to Green List (high evidence)
Source NHS GMS was added to CACNA1A.
gene: CACNA1A was added gene: CACNA1A was added to Myotonia congenita. Sources: London North GLH Mode of inheritance for gene: CACNA1A was set to