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  3. CACNA1A
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Childhood onset dystonia, chorea or related movement disorder

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 23 panels

1 review

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

Green List (high evidence)

Suggested by Huw and Raquel
Created: 9 Jul 2019, 4:24 p.m. | Last Modified: 9 Jul 2019, 4:24 p.m.
Panel Version: 0.9
Created: 9 Jul 2019, 4:24 p.m.
Last Modified: 9 Jul 2019, 4:24 p.m.
Panel version: Imported from GMS Neurology specialist test group-Movement disorders - childhood onset-LNGLH_v2 panel version 0.9

History Filter Activity

8 Nov 2021, Gel status: 3

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: CACNA1A were changed from familial hemiplegic migraine type 1, 141500; Dystonia; episodic ataxia type 2 (EA2), 108500 to Episodic ataxia, type 2, OMIM:108500

6 Dec 2019, Gel status: 3

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

Ellen McDonagh (Genomics England Curator)

Source PanelApp was added to CACNA1A. Mode of inheritance for gene CACNA1A was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Added phenotypes familial hemiplegic migraine type 1, 141500; Dystonia; episodic ataxia type 2 (EA2), 108500 for gene: CACNA1A Publications for gene CACNA1A were changed from to 21734179; 17575281

6 Dec 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Ellen McDonagh (Genomics England Curator)

gene: CACNA1A was added gene: CACNA1A was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green Mode of inheritance for gene: CACNA1A was set to