Gene Symbol:
CACNA1C
HGNC:1390
Locus Group:
protein-coding gene
Locus Type:
gene with protein product
Location:
12p13.33
Filters:

Definitive classifications

AD
05/25/2022
Evaluated
09/11/2023
Submitted
Timothy syndrome
Submitted as: OMIM:601005
AD
07/22/2015
Evaluated
09/11/2023
Submitted

Strong classifications

Timothy syndrome
Submitted as: OMIM:601005
AD
09/16/2015
Evaluated
03/02/2021
Submitted
neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures
Submitted as: OMIM:620029
AD
02/24/2022
Evaluated
08/19/2023
Submitted
Timothy syndrome
Submitted as: OMIM:601005
AD
02/15/2023
Evaluated
11/30/2023
Submitted

Moderate classifications

long qt syndrome 8
Submitted as: OMIM:618447
AD
09/17/2015
Evaluated
03/02/2021
Submitted
AD
04/24/2020
Evaluated
10/18/2023
Submitted

Supportive classifications

Brugada syndrome
Submitted as: Orphanet:130
AD
09/14/2021
Evaluated
09/14/2021
Submitted
Timothy syndrome
Submitted as: Orphanet:65283
AD
09/14/2021
Evaluated
09/14/2021
Submitted

Limited classifications

AD
03/02/2021
Evaluated
03/31/2021
Submitted
intellectual disability
AD
08/23/2018
Evaluated
09/28/2021
Submitted
Brugada syndrome 3
Submitted as: OMIM:611875
AD
11/18/2019
Evaluated
11/30/2023
Submitted

Disputed Evidence classifications

Brugada syndrome 3
Submitted as: OMIM:611875
AD
04/06/2020
Evaluated
03/02/2021
Submitted

The GenCC data are available free of restriction under a CC0 1.0 Universal (CC0 1.0) Public Domain Dedication. The GenCC requests that you give attribution to GenCC and the contributing sources whenever possible and appropriate. The accepted Flagship manuscript is now available from Genetics in Medicine (https://www.gimjournal.org/article/S1098-3600(22)00746-8/fulltext).

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. The GenCC does not independently verify the submitted information. Though the information is obtained from sources believed to be reliable, no warranty, expressed or implied, is made regarding accuracy, adequacy, completeness, reliability or usefulness of any information. This disclaimer applies to both isolated and aggregate uses of the information. The information is provided on an "as is" basis, collected through periodic submission and therefore may not represent the most up-to-date information from the submitters. If you have questions about the medical relevance of information contained on this website, please see a healthcare professional; if you have questions about specific gene-disease claims, please contact the relevant sources; and if you have questions about the representation of the data on this website, please contact gencc@thegencc.org.