Gene Symbol:
CACNA1A
HGNC:1388
Locus Group:
protein-coding gene
Locus Type:
gene with protein product
Location:
19p13.13
Filters:

Definitive classifications

episodic ataxia type 2
Submitted as: OMIM:108500
AD
06/26/2018
Evaluated
03/02/2021
Submitted
undetermined early-onset epileptic encephalopathy
Submitted as: OMIM:617106
AD
08/03/2021
Evaluated
10/27/2022
Submitted

Strong classifications

migraine, familial hemiplegic, 1
Submitted as: OMIM:141500
AD
02/18/2021
Evaluated
03/31/2021
Submitted
episodic ataxia type 2
Submitted as: OMIM:108500
AD
02/18/2021
Evaluated
03/31/2021
Submitted
spinocerebellar ataxia type 6
Submitted as: OMIM:183086
AD
02/18/2021
Evaluated
03/31/2021
Submitted
spinocerebellar ataxia type 6
Submitted as: OMIM:183086
AD
06/26/2018
Evaluated
03/02/2021
Submitted
migraine, familial hemiplegic, 1
Submitted as: OMIM:141500
AD
08/22/2017
Evaluated
03/02/2021
Submitted

Moderate classifications

developmental and epileptic encephalopathy, 42
Submitted as: OMIM:617106
AD
06/26/2018
Evaluated
03/02/2021
Submitted

Supportive classifications

episodic ataxia type 2
Submitted as: Orphanet:97
AD
09/14/2021
Evaluated
09/14/2021
Submitted
Lennox-Gastaut syndrome
Submitted as: Orphanet:2382
AD
09/14/2021
Evaluated
09/14/2021
Submitted
familial or sporadic hemiplegic migraine
Submitted as: Orphanet:569
AD
09/14/2021
Evaluated
09/14/2021
Submitted
benign paroxysmal torticollis of infancy
Submitted as: Orphanet:71518
AD
09/14/2021
Evaluated
09/14/2021
Submitted
spinocerebellar ataxia type 6
Submitted as: Orphanet:98758
AD
09/14/2021
Evaluated
09/14/2021
Submitted
undetermined early-onset epileptic encephalopathy
Submitted as: Orphanet:442835
AD
09/14/2021
Evaluated
09/14/2021
Submitted

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