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

Definitive classifications

Timothy syndrome
Submitted as: OMIM:601005
AD
07/22/2015
Evaluated
11/25/2020
Submitted

Strong classifications

Timothy syndrome
Submitted as: OMIM:601005
AD
09/16/2015
Evaluated
03/02/2021
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
08/16/2021
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

Disputed Evidence classifications

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

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