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  3. CACNA1A
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Dystonia - complex

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 17 panels

1 review

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

At least four families where dystonia is a feature of the condition (complex dystonia phenotype), and knockout mouse model also has dystonia as a feature of the phenotype.
Sources: Expert list
Created: 5 Apr 2020, 5:32 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Episodic ataxia, type 2 MIM#108500; Spinocerebellar ataxia 6 MIM#183086

Publications

Created: 5 Apr 2020, 5:32 a.m.

Panel version: 0.14

History Filter Activity

6 Sep 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: cacna1a has been classified as Green List (High Evidence).

5 Apr 2020, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: cacna1a has been classified as Green List (High Evidence).

5 Apr 2020, Gel status: 1

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

Bryony Thompson (Royal Melbourne Hospital)

gene: CACNA1A was added gene: CACNA1A was added to Dystonia - complex. Sources: Expert list Mode of inheritance for gene: CACNA1A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: CACNA1A were set to 25468264; 23441182; 19232643; 18758887; 11344116 Phenotypes for gene: CACNA1A were set to Episodic ataxia, type 2 MIM#108500; Spinocerebellar ataxia 6 MIM#183086 Review for gene: CACNA1A was set to GREEN