Gene Symbol:
CACNA1S
HGNC:1397
Locus Group:
protein-coding gene
Locus Type:
gene with protein product
Location:
1q32.1
Filters:

Strong classifications

hypokalemic periodic paralysis, type 1
Submitted as: OMIM:170400
AD
12/24/2020
Evaluated
03/31/2021
Submitted
AD
12/24/2020
Evaluated
03/31/2021
Submitted
AR
12/24/2020
Evaluated
03/31/2021
Submitted
hypokalemic periodic paralysis, type 1
Submitted as: OMIM:170400
AD
07/30/2018
Evaluated
12/24/2020
Submitted
SD
11/15/2022
Evaluated
06/30/2023
Submitted
hypokalemic periodic paralysis, type 1
Submitted as: OMIM:170400
AD
10/06/2023
Evaluated
11/30/2023
Submitted
malignant hyperthermia, susceptibility to, 5
Submitted as: OMIM:601887
AD
08/20/2021
Evaluated
11/30/2023
Submitted
congenital myopathy 18
Submitted as: OMIM:620246
AR
08/01/2023
Evaluated
11/30/2023
Submitted
congenital myopathy 18
Submitted as: OMIM:620246
AD
08/01/2023
Evaluated
11/30/2023
Submitted

Moderate classifications

malignant hyperthermia, susceptibility to, 5
Submitted as: OMIM:601887
AD
09/19/2017
Evaluated
12/24/2020
Submitted

Supportive classifications

hypokalemic periodic paralysis
Submitted as: Orphanet:681
AD
09/14/2021
Evaluated
09/14/2021
Submitted

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