CACNA1C

calcium voltage-gated channel subunit alpha1 C
OMIM: 114205
PanelMode of inheritanceDetails
7 panels
R-numbers: R135
Signed-off version 1.4
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 2.2
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
TIMOTHY SYNDROME 601005
R-numbers: R21
Signed-off version 1.92
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
TIMOTHY SYNDROME
Component of the following Super Panels:
  • - Sudden cardiac death
R-numbers: R131
Signed-off version 2.11
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Hypertrophic cardiomyopathy, Brugada syndrome 3 611875, Long QT syndrome 8 618447, Timothy syndrome 601005
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R29
Signed-off version 3.2
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Brugada syndrome 3 611875, Timothy syndrome 601005
Component of the following Super Panels:
  • - Cardiac arrhythmias
  • - Sudden cardiac death
R-numbers: R127
Signed-off version 2.20
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Brugada syndrome 3 (611875), Timothy syndrome (601005)
Component of the following Super Panels:
  • - Cardiac arrhythmias
  • - Sudden cardiac death
R-numbers: R130
Signed-off version 2.4
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Brugada syndrome 3 611875, syncope, brugada syndrome, scd, Brugada syndrome 3 (611875), short qt, Timothy syndrome (601005)