Paroxysmal central nervous system disorders
Gene: CACNA1A
Review and rating from James Polke (Neurogenetics Laboratory, Institute of Neurology, London) was collated (February 2019) on behalf of London North GLH for the GMS Neurology specialist test group.Created: 2 Sep 2019, 2:39 p.m. | Last Modified: 2 Sep 2019, 2:39 p.m.
Panel Version: 0.26
Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust) was collated (February 2019) on behalf of West Midlands, Oxford and Wessex GLH for the GMS Neurology specialist test group.Created: 2 Sep 2019, 1:39 p.m. | Last Modified: 2 Sep 2019, 1:39 p.m.
Panel Version: 0.23
Migraine, episodic ataxiaCreated: 2 Sep 2019, 1:30 p.m. | Last Modified: 2 Sep 2019, 1:30 p.m.
Panel Version: 0.22
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Migraine, familial hemiplegic, 1, with progressive cerebellar ataxia, 141500; Migraine, familial hemiplegic, 1, 141500; Episodic Ataxia, type 2, 108500; Epileptic encephalopathy, early infantile, 42, 617106; Spinocerebellar ataxia 6, 183086
Variants in this GENE are reported as part of current diagnostic practice
Phenotypes for gene: CACNA1A were changed from Migraine, familial hemiplegic, 1, with progressive cerebellar ataxia, 141500; EA2; Migraine, familial hemiplegic, 1, 141500; Episodic Ataxia, Type 2; familial hemiplegic migraine type 1, 141500; episodic ataxia type 2 (EA2),108500; Spinocerebellar ataxia 6, 183086; Episodic ataxia, type 2, 108500 to Episodic ataxia, type 2, OMIM:108500; Migraine, familial hemiplegic, 1, OMIM:141500; Migraine, familial hemiplegic, 1, with progressive cerebellar ataxia, OMIM:141500
Gene: cacna1a has been classified as Green List (High Evidence).
Mode of inheritance for gene: CACNA1A was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Source NHS GMS was added to CACNA1A.
Source London North GLH was added to CACNA1A.
Source Wessex and West Midlands GLH was added to CACNA1A.
Added phenotypes Migraine, familial hemiplegic, 1, with progressive cerebellar ataxia, 141500; EA2; Migraine, familial hemiplegic, 1, 141500; Episodic Ataxia, Type 2; familial hemiplegic migraine type 1, 141500; episodic ataxia type 2 (EA2),108500; Spinocerebellar ataxia 6, 183086; Episodic ataxia, type 2, 108500 for gene: CACNA1A
gene: CACNA1A was added gene: CACNA1A was added to Paroxysmal neurological disorders, pain disorders and sleep disorders. 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 Migraine, familial hemiplegic, 1, with progressive cerebellar ataxia, 141500; EA2; Migraine, familial hemiplegic, 1, 141500; Episodic Ataxia, Type 2; familial hemiplegic migraine type 1, 141500; episodic ataxia type 2 (EA2),108500; Spinocerebellar ataxia 6, 183086; Episodic ataxia, type 2, 108500