Genes in panel

Hereditary ataxia - adult onset

Gene: CACNA1A

Green List (high evidence)

CACNA1A (calcium voltage-gated channel subunit alpha1 A)
EnsemblGeneIds (GRCh38): ENSG00000141837
EnsemblGeneIds (GRCh37): ENSG00000141837
OMIM: 601011, Gene2Phenotype
CACNA1A is in 25 panels

3 reviews

James Polke (Neurogenetics Laboratory, Institute of Neurology, London)

Green List (high evidence)

EA2 and SCA6
Created: 27 Apr 2019, 7:39 p.m.

Louise Daugherty (Genomics England Curator)

I don't know

Review and rating submitted by James Polke (Neurogenetics Laboratory, Institute of Neurology, London) on behalf of London North GLH for GMS Neurology specialist test group
Created: 27 Apr 2019, 8:55 p.m.
Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group.
Created: 15 Apr 2019, 10:21 a.m.

Tracy Lester (Genetics laboratory, Oxford UK)

Green List (high evidence)

EA2 generally associated with haploinsufficient variants while FHM +/- cerebellar ataxia associated with a number of missense variants. SCA6 is a result of CAG expansions in terminal exon
Created: 15 Apr 2019, 10:06 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Episodic ataxia type 2, 108500, Familial hemiplegic migraine 1, 141500, SCA6, 183086

Variants in this GENE are reported as part of current diagnostic practice

History Filter Activity

8 Nov 2021, Gel status: 3

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: CACNA1A were changed from SCA6, 183086; familial hemiplegic migraine type 1, 141500; Episodic ataxia, type 2; Spinocerebellar ataxia 6; Familial hemiplegic migraine 1, 141500; Episodic ataxia type 2, 108500; Migraine, familial hemiplegic, 1, with progressive cerebellar ataxia; episodic ataxia type 2 (EA2),108500 to Episodic ataxia, type 2, OMIM:108500; Migraine, familial hemiplegic, 1, with progressive cerebellar ataxia, OMIM:141500

27 Apr 2019, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

Source London North GMS was added to CACNA1A.

15 Apr 2019, Gel status: 4

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Episodic ataxia type 2, 108500; SCA6, 183086; Familial hemiplegic migraine 1, 141500 for gene: CACNA1A

14 Apr 2019, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to CACNA1A.

14 Apr 2019, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

Source Wessex and West Midlands GLH was added to CACNA1A.

9 Jan 2019, Gel status: 4

Panel promoted to version 1.0

Louise Daugherty (Genomics England Curator)

Checked panel against panel constituents. Ready to promote to version 1.

18 Dec 2018, Gel status: 4

Added Tag

Eleanor Williams (Genomics England Curator)

Tag treatable tag was added to gene: CACNA1A.

18 Dec 2018, Gel status: 4

Added Tag

Eleanor Williams (Genomics England Curator)

Tag nucleotide-repeat-expansion tag was added to gene: CACNA1A.

15 Dec 2018, Gel status: 4

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Eleanor Williams (Genomics England Curator)

gene: CACNA1A was added gene: CACNA1A was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Brain channelopathy v1.46,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 Spinocerebellar ataxia 6; familial hemiplegic migraine type 1, 141500; episodic ataxia type 2 (EA2),108500; Episodic ataxia, type 2; Migraine, familial hemiplegic, 1, with progressive cerebellar ataxia